Human Genetics Test-1

Human Genetics - CS
Bessisy Tamir 1143
1) Genotype includes:
a. [ ] only nuclear DNA
b. [ ] only mitochondrial DNA
c. [X] nuclear genes
d. [ ] all mitochondrial genes
e. [ ] nuclear and mitochondrial genes
2) Which of the following is not a part of genetic apparatus?
a. [ ] nucleus
b. [ ] centrioles
c. [ ] mitochondria
d. [X] lysosomes
e. [ ] ribosomes
3) Which of the following describes human genome?
a. [ ] the total complement of nuclear genes
b. [X] the total complement of genes contained in a cell
c. [ ] fragments of DNA which encode proteins
d. [ ] a complete set of the genes of a human population
e. [ ] the genetic constitution of an organism
4) Which of the following provides the equal separation of genetic material?
a. [ ] ribosomes
b. [ ] chromosomes
c. [X] centrioles
d. [ ] mitochondria
e. [ ] endoplasmic reticulum
5) Which of the following refers to total complement of nuclear genes?
a. [ ] phenotype
b. [ ] gene pool
c. [ ] linkage group
d. [ ] caryotype
e. [X] genotype
6) The following are synthesized in G2-phase:
a. [X] RNA and proteins of mitotic spindle
b. [ ] DNA and proteins
c. [ ] RNA, DNA and proteins
d. [ ] DNA, RNA and histones
e. [ ] none of the above
7) In which of the interphase stages does human cell contain 92 molecules of DNA?
a. [ ] in S-phase only
b. [ ] in G1-phase
c. [X] in both G1 phase - and S -phase
d. [ ] in G2-phase
e. [ ] during whole interphase
8) DNA replication takes place:
a. [ ] in interphase (during all phases)
b. [ ] at the beginning of S-phase
c. [X] during S phase
d. [ ] during mitosis
e. [ ] during G0 phase
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Human Genetics - CS
Bessisy Tamir 1143
9) Which of the following stages is the most important from genetical point of view?
a. [ ] G1 and G2
b. [ ] G1
c. [X] S
d. [ ] G0
e. [ ] G2
10) Cell DNA is located in:
a. [ ] nucleus
b. [ ] euchromatin
c. [ ] mitochondria
d. [ ] chromosomes only
e. [X] both nucleus and mitochondria
11) Nuclear genome is represented by:
a. [ ] 4000 genes
b. [X] 46 molecules of DNA
c. [ ] mobile elements
d. [ ] viral DNA
e. [ ] pseudogenes
12) Which of the following refers to total complement of genes in population?
a. [ ] phenotype
b. [X] gene pool
c. [ ] linkage group
d. [ ] karyotype
e. [ ] genotype
13) Normal human gamete contains:
a. [ ] 2n=23
b. [X] n=23
c. [ ] n=46
d. [ ] 22 autosomes
e. [ ] 44 autosomes
14) What do contain normal human eggs?
a. [ ] 44 + X
b. [ ] 44 + Y
c. [ ] 22 + XY
d. [ ] 22 + Y
e. [X] 22 + X
15) Cell center is a part of genetic apparatus because:
a. [ ] consists of two centrioles
b. [ ] is surrounded by centrosphere
c. [ ] is represented by a single body
d. [X] assures exact segregation of genetic information during cell division
e. [ ] contains membranes
16) Which of the following don't characterize euchromatin?
a. [ ] early replication
b. [ ] it's diffuse chromatin
c. [ ] is transcribed
d. [ ] contains active genes
e. [X] contains highly repetitive sequence
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Human Genetics - CS
Bessisy Tamir 1143
17) Which of the following don't characterize heterochromatin?

a. [ ] late replication
b. [ ] it's condense
c. [ ] contains non-active genes
d. [X] is transcribed
e. [ ] contains highly repetitive sequence
18) Chemical composition of chromosomes:
a. [ ] DNA and RNA
b. [X] DNA, RNA, histones and non-histones
c. [ ] DNA and histones
d. [ ] DNA, RNA and non-histones
e. [ ] RNA and histones
19) Normal human somatic cells contain:
a. [ ] a haploid number of chromosome (2n=23)
b. [X] a diploid number of chromosomes (2n=46)
c. [ ] 46 pairs of autosomes
d. [ ] 44 autosomes and 2 pairs of sex chromosomes
e. [ ] 22 autosomes and sex chromosome
20) Which of the following is not shared by homologous chromosomes?
a. [ ] they are similar in morphology
b. [ ] they form pairs during meiosis
c. [ ] they have maternal and paternal origin
d. [ ] they are present in diploid cells
e. [X] they are present in haploid cells
21) Which of the following is true concerning autosomes?
a. [ ] there are 23 pairs in each human cell
b. [ ] all of them are identical
c. [ ] they are present only in somatic cells
d. [X] they pair during meiosis and form 22 bivalents
e. [ ] they are different in men and women
22) The chromosomes represent:
a. [ ] the most condensed, genetically active chromatin
b. [ ] genetic information during interphase
c. [X] genetic material during cell division
d. [ ] the total complement of DNA molecules from a cell
e. [ ] structures which consists of RNAs and proteins
23) What do contain normal sperm cells?
a. [ ] 44+X
b. [ ] 44+Y
c. [ ] 22+XY
d. [X] 22+X
e. [ ] 22+XX
24) Which of the following is not a morphological criterion of metaphase chromosomes?
a. [X] number of chromosomes
b. [ ] presence of centromere
c. [ ] presence of telomeres
d. [ ] chromosomal length
e. [ ] position of the centromere
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Human Genetics - CS
Bessisy Tamir 1143
25) What the term "karyotype" does mean?

a. [ ] nuclear genetic material
b. [ ] genetic information from a haploid cell
c. [ ] type of chromosomes
d. [X] display of the metaphase chromosome of a somatic cell
e. [ ] entire genetic information of cell
26) Which of the following is used to block mitosis at metaphase?
a. [ ] phytohaemagglutinin
b. [X] colchicine
c. [ ] histones
d. [ ] CARR
e. [ ] quinacrin.
27) Which of the following is not a step of chromosome analysis?
a. [ ] collecting of blood in aseptic condition
b. [X] treatment of cell by restriction enzymes
c. [ ] blocking of mitosis in metaphase
d. [ ] adding of fixative
e. [ ] examination, using a microscope
28) Which of the following is not necessary for chromosome analysis?
a. [ ] fixative solution
b. [ ] orcein
c. [ ] quinacrin
d. [ ] CARR
e. [X] endonuclease
29) Which of the following groups includes X chromosome?
a. [ ] group A
b. [ ] group B
c. [X] group C
d. [ ] group E
30) Which of the listed groups includes Y- chromosome?
a. [ ] group A
b. [ ] group C
c. [X] group G
d. [ ] group D
31) Exact identification of chromosomes may be done using the following criterion:
a. [ ] length of chromosome
b. [ ] position of the centromere
c. [ ] presence of secondary constriction
d. [X] different patterns of banding
e. [ ] presence of satellites
32) Which of the following is false for metaphase chromosome?
a. [ ] they are attached to the spindle fibers
b. [X] they move to the opposite poles
c. [ ] they are located in cytoplasm
d. [ ] they consist of 2 chromatids
e. [ ] they are strongly condensed
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Human Genetics - CS
Bessisy Tamir 1143
33) Which of the following is the main genetic difference between interphase chromatin and metaphase chromosomes?
a. [ ] chemical composition
b. [X] level of condensation
c. [ ] genetic activity
d. [ ] intensity of staining
e. [ ] quantity of genetic information
34) Telomeres are necessary for:
a. [ ] cell division
b. [ ] DNA replication
c. [ ] nucleolus formation
d. [X] maintaining of entire chromosome structure
e. [ ] transcription
35) The chromosomes represent:
a. [ ] non-active euchromatin
b. [ ] genetic material during interphase
c. [X] genetic material during cell division
d. [ ] bodies which appear during mitochondrial division
e. [ ] bodies which consist of RNA and proteins
36) Which of the following is false concerning 21st chromosome?
a. [ ] is an acrocentric chromosome
b. [ ] is a small chromosome
c. [ ] is included in G group
d. [ ] contains satellites on short arms
e. [X] there are tree chromosomes in Turner syndrome
37) Which of the following karyotypes don't correspond to normal phenotype?
a. [ ] 46,X,Yq+
b. [ ] 46,XY,9qh+
c. [ ] satellites in chromosomes from D group
d. [ ] 46,XY,inv(4)(p15q13)
e. [X] 46,XY,5p-
38) What method uses obligatory fluorescent microscope?
a. [ ] T banding
b. [ ] C banding
c. [X] Q banding
d. [ ] G banding
e. [ ] R banding
39) Which of the following is false for X- chromosome?
a. [X] it is present in females only
b. [ ] it is present in males and females
c. [ ] it contains many genes
d. [ ] it may be inactivated
e. [ ] half of the sperms contain an X chromosome
40) What is common for X and Y chromosomes?
a. [ ] they have the same length
b. [X] they both are sex chromosomes
c. [ ] they have the same number of genes
d. [ ] they are inactive
e. [ ] they both produce Barr bodies
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Human Genetics - CS
Bessisy Tamir 1143
41) What is number of Barr bodies in normal karyotype of women?

a. [ ] 2
b. [X] 1
c. [ ] 3
d. [ ] 0
42) The number of Barr bodies:
a. [ ] is equal with the number of X chromosomes
b. [ ] is equal with the number of Y chromosomes
c. [X] is one less than the number of X chromosomes
d. [ ] is one more than the number of chromosomes
43) Examination of Barr bodies is not useful to:
a. [X] determine the number of autosomes
b. [ ] determine the sex in prenatal stage
c. [ ] determine the sex of a person with ambiguous genitalia
d. [ ] determine the number of X chromosomes
e. [ ] detect abnormal karyotype
44) Which of the following corresponds to the karyotype 47,XX iso(Xp)?
a. [ ] two fluorescent bodies
b. [ ] one 0,5 µm Barr body
c. [X] two Barr bodies: 1 µm and 0,5 µm respectively
d. [ ] one 0,5 µm F body
e. [ ] always - two normal Barr bodies
45) Which of the following is observed in cells of person with karyotype 47,XYY?
a. [X] two fluorescent bodies
b. [ ] two normal Barr bodies
c. [ ] one 0,5 µm Barr body
d. [ ] two Barr bodies: 1 µm and 0,5 µm respectively
e. [ ] one 0,5 µm F body
46) Chose the number of Barr bodies, which corresponds to the following karyotype 47,XXY?
a. [X] 1
b. [ ] 2
c. [ ] 3
d. [ ] 0
e. [ ] 4
47) Chose the number of Barr bodies, which corresponds to the following karyotype 47,XXX?
a. [ ] 1
b. [X] 2
c. [ ] 3
d. [ ] 0
e. [ ] 4
48) Chose the number of Barr bodies, which corresponds to the following karyotype 47,XX,+21?
a. [X] 1
b. [ ] 2
c. [ ] 3
d. [ ] 0
e. [ ] 21
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Human Genetics - CS
Bessisy Tamir 1143
49) Chose the number of Barr bodies, which corresponds to the following karyotype 47,XY,+13?
a. [ ] 1
b. [ ] 2
c. [ ] 3
d. [X] 0
e. [ ] 13
50) Chose the number of Barr bodies, which corresponds to the following karyotype 45,X?
a. [ ] 1
b. [ ] 2
c. [ ] 3
d. [X] 0
e. [ ] 4
51) Which of the following corresponds to the karyotype 47,XYY?
a. [ ] a man with Klinefelter syndrome
b. [ ] one 0,5 µm Barr body
c. [ ] one 0,5 µm F body
d. [X] two normal F bodies
e. [ ] two Barr bodies
52) Which of the following corresponds to the karyotype 47,XY iso(Xp)?
a. [ ] absence of F body
b. [X] 0,25 µm F body
c. [ ] 0,5 µm F body
d. [ ] two 0,25 µm F bodies
e. [ ] two F bodies: 0,25 µm and 0,50 µm respectively
53) For which of karyotypes is true the following list of Barr bodies: 0,1,0,1?
a. [X] 45,X; 46,XX; 47,XYY; 48,XXYY
b. b) [ ] 46,XX; 46,XY; 45,X; 47,XXX
c. c) [ ] 47,XYY; 46,XX; 46,XY; 48,XXXX
d. d) [ ] 46,XY; 45,X; 47,XXY; 47,XYY
e. e) [ ] 47,XXX; 46,XY; 48,XXYY; 47,XYY
54) Which of the following contains more than one Barr body in the cells?
a. [ ] a woman with normal phenotype
b. [ ] a man with Klinefelter syndrome
c. [ ] a woman 46,X,i(Xq)
d. [ ] a woman with Turner syndrome
e. [X] a woman with trisomy X
55) Which of the following is false concerning X- chromatin?
a. [ ] represents a heterochromatin body in multilobed nuclei of neutrophils
b. [ ] in mucosa cells is attached to the inner nuclear membrane
c. [ ] it is colored with quinacrine
d. [X] it is darkly colored
e. [ ] represents an inactivated X chromosome
56) The F body:
a. [ ] represents a X-chromatin body
b. [ ] represents an entirely inactivated Y chromosome
c. [ ] it is present in two copies in persons with Klinefelter syndrome
d. [ ] it is present in all persons without Barr body
e. [X] the number of F bodies and Y-chromosomes is the same
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Human Genetics - CS
Bessisy Tamir 1143
57) Which of the following persons may contain 47 chromosomes and a single Barr body?
a. [ ] a man with trisomy 21
b. [X] a woman with trisomy 13
c. [ ] a woman containing an additional X chromosome
d. [ ] a person with karyotype 47,XYY
e. [ ] a woman with Turner syndrome
58) Which of the following sequence of numbers represents the right number of Barr bodies observed in: a man
with trisomy 21; a woman with trisomy X; a woman with Turner syndrome; a man with Klinefelter syndrome?
a. [ ] 0, 1, 2, 1
b. [ ] 1, 1, 0, 1
c. [X] 0, 2, 0, 1
d. [ ] 2, 0, 1, 1
e. [ ] 1, 1, 0, 2
59) What F body represents?
a. [ ] a X chromosome
b. [ ] a Y chromosome
c. [ ] 2/3 of Y chromosome
d. [ ] 2/3 of short arm of Y chromosome
e. [X] 2/3 of long arm of Y chromosome
60) Which of the following is not a characteristic of mitosis?
a. [ ] it is a equational division
b. [ ] transmission of genetic information takes place exactly
c. [ ] daughter cells receive the same number of chromosomes
d. [ ] it consists of prophase, metaphase, anaphase, telophase
e. [X] it begins with monochromatidian chromosomes
61) Which of the following is not a phase of mitosis?
a. [X] diakinesis
b. [ ] anaphase
c. [ ] prophase
d. [ ] metaphase
e. [ ] telophase
62) Which of the following combinations correctly describes the sequence of mitosis phases?
a. [ ] prophase-telophase-metaphase-anaphase
b. [ ] anaphase-prophase-telophase-metaphase
c. [ ] metaphase-prophase-anaphase-telophase
d. [X] prophase-metaphase-anaphase-telophase
e. [ ] prophase-anaphase-metaphase-telophase
63) Which of the following is not an importance of mitosis?
a. [ ] it ensures stability of the tissues
b. [ ] it provides embriogenesis
c. [ ] it ensures the substitution of dead cells
d. [ ] it provides growth and development
e. [X] it links parents with their offspring
64) Which of the following formula corresponds to the anaphase of mitosis?
a. [ ] 2n=1c
b. [ ] 2n=4c
c. [X] 4n=4c
d. [ ] 2n=2c
e. [ ] 4n=2c
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Human Genetics - CS
Bessisy Tamir 1143
65) Which of the following formula corresponds to the prophase of mitosis?

a. [ ] 2n=2c
b. [ ] 4n=4c
c. [X] 2n=4c
d. [ ] 4n=2c
e. [ ] 2n=1c
66) Which of the following is not a characteristic of meiosis?
a. [ ] it contains a reductional division
b. [X] it provides growth and development
c. [ ] it links parents with their offspring
d. [ ] it ensures the constant number of chromosomes in generations of organisms
e. [ ] it increases genetic variability
67) In which of the following stages of meiosis does take place crossing-over?
a. [ ] anaphase I
b. [X] prophase I
c. [ ] anaphase II
d. [ ] metaphase I
e. [ ] metaphase II
68) Bivalent is:
a. [X] a pair of homologous chromosomes
b. [ ] a result of crossing over
c. [ ] a set of four chromosomes
d. [ ] a characteristic of mitosis
e. [ ] formed during prophase II
69) When does occur inter-chromosomal recombination?
a. [ ] in anaphase II
b. [ ] in metaphase II
c. [ ] in prophase II
d. [ ] in prophase I
e. [X] in anaphase I
70) When does occur intra-chromosomal recombination?
a. [ ] in anaphase II
b. [ ] in anaphase I
c. [X] in prophase I
d. [ ] in prophase II
e. [ ] in metaphase I
71) Which of the following errors leads to the mosaic 46,Xi(Xp) / 46,Xi(Xq)?
a. [ ] non-disjunction of chromatids in X chromosome
b. [ ] anaphase lag in mitosis
c. [X] transversal cleavage of centromere during first zygotic division
d. [ ] anaphase lag in meiosis
e. [ ] transversal cleavage of centromere during blastomere's division
72) Crossing-over takes place during:
a. [ ] anaphase I
b. [ ] prophase II
c. [ ] anaphase II
d. [X] prophase I
e. [ ] telophase I
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Human Genetics - CS
Bessisy Tamir 1143
73) What zygotes will result after fertilization of an normal gamete with a gamete produced after non-
disjunction during meiosis I in father?
a. [X] 45,X; 47,XXY
b . [ ] 45,X; 46,YY; 47, XYY
c . [ ] 45,X; 47,XXY; 47, XYY
d. [ ] 45,X; 46,XY; 47,XXX
e. [ ] 46,XY; 47,XXX; 47, XYY
disjunction during meiosis II in father?
a . [ ] 45,X; 46,XXX; 47,XYY
b . [ ] 45,X; 47,XXX; 47,XXY
c . [X] 45,X; 47,XXX; 47,XYY
d . [ ] 45,X; 47,XXX; 46,XYY
e. [ ] 45,X; 47,XXY; 47,XYY
75) Which of the following errors leads to mosaic 46,Xi(Xp)/46,XX/46,Xi(Xq)?
a. [X] transversal cleavage during second zygotic division
b. [ ] anaphase lag during mitosis
c. [ ] transversal cleavage during first zygotic division
d. [ ] non-disjunction of X chromosomes during mitosis
e. [ ] non-disjunction of X chromosomes during meiosis
76) Which of the following is not a characteristic of meiosis?
a. [ ] meiosis assures variability
b. [ ] first prophase is the longest stage
c. [ ] both divisions consist of four stages: prophase, metaphase, anaphase and telophase
d. [ ] distribution errors may occur in both divisions
e. [X] consists of two divisions: the first equational and the second - reductional
77) The mosaic 47/46/45 can be produced via:
a. [ ] anaphase lag during mitosis
b. [X] nondisjunction during mitosis and meiosis II
c. [ ] nondisjunction during mitosis
d. [ ] nondisjunction during meiosis II
e. [ ] nondisjunction during meiosis I
78) New gene combinations are produced during:
a. [ ] telophase I and anaphase II
b. [ ] anaphase II
c. [ ] metaphase II
d. [ ] prophase I and prophase II
e. [X] prophase I and anaphase I
79) which of the following is not a characteristic of mitosis?
a. [ ] resulted cells are diploid
b. [ ] result two cells
c. [X] at first stage of mitosis the cell contains monochromatidian chromosomes
d. [ ] may occur in testis
e. [ ] is an equational division
80) In case of codominance in heterozygous:
a. [X] both allele genes are manifested
b. [ ] only recessive gene is manifested
c. [ ] only dominant gene is manifested
d. [ ] two non-allele genes are manifested
e. [ ] a intermediate trait is formed
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Human Genetics - CS
Bessisy Tamir 1143
81) What of the following is an example of allele interaction?

a. [ ] epistasis
b. [ ] gene complementarity
c. [ ] poligeny
d. [X] complete dominance
e. [ ] pleiotropy
82) What of the following is an example of non- allele interaction?
a. [ ] complete dominancy
b. [ ] pleiotropy
c. [X] gene complementarity
d. [ ] incomplete dominancy
e. [ ] poliallelism
83) Mother has A1 blood group and her son has A2. Which of the following cannot be father of child?
a. [ ] A2
b. [ ] B
c. [ ] A1
d. [X] A1B
e. [ ] A2B
84) A woman has Hp1-1 and his brother is Hp2-2. What genotypes may have parents?
a. [ ] Hp 1-1 / Hp 1-1
b. [X] Hp 1-2 / Hp 1-2
c. [ ] Hp 1-2 / Hp 2-2
d. [ ] Hp 1-1 / Hp 1-2
e. [ ] Hp 2-2 / Hp 2-2
85) In which of the following combinations couples cannot have children with A2 blood group?
a. [ ] A1 + B
b. [X] A1B + B
c. [ ] A2B + O
d. [ ] A2 + A2B
e. [ ] A2B + A1
86) In which of the following combinations couples may have children with O blood group?
a. [X] A1+ B
b. [ ] B + A2B
c. [ ] A1B + O
d. [ ] A1B + A2B
e. [ ] A + A1B
87) In which of the following combinations couples cannot have children with B blood group?
a. [ ] A1 + B
b. [ ] B + O
c. [ ] A2 + A2B
d. [X] A2 + O
e. [ ] A2B + A1B
88) Mother has A1 blood group and her son has A2. Which of the following cannot be father of child?
a. [ ] A1
b. [ ] A2B
c. [ ] A2
d. [X] A1B
e. [ ] there are no true answers
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Human Genetics - CS
Bessisy Tamir 1143
89) Which of the following is not a child of this couple:

Mother: A1, MN, Rh+, Hp1-1, G
Father: A2B, N, Rh+, Hp1-2, g
Children:
a. [ ] A2B, MN, Rh-, Hp1-2, g
b. [ ] A1B, N, Rh+, Hp1-1, G
c. [ ] A2, MN, Rh+, Hp1-2, G
d. [ ] A1, N, Rh+, Hp1-1, g
e. [X] B, N, Rh+, Hp2-2, G
90) Which of the following is not a child of this couple:
Mother: A1, MN, G
Father: B, N, g
Children:
a. [ ] O, MN, G
b. [ ] A2B, N, g
c. [ ] A2 , MN, G
d. [X] A1B, M, g
e. [ ] A1, N, g
91) Which of the following can be father of child:
Mother: A1, N, Rh+, g
Child: A1, MN, Rh+, G
Father:
a. [ ] A1, M, Rh-, g
b. [X] O, M, Rh+, G
c. [ ] O, M, Rh+, g
d. [ ] A1, MN, Rh+, g
e. [ ] A2B, N, Rh+, G
92) Which of the following cannot be father of child:
Mother: B, M , Rh+, Hp1-1
Child: A1B, MN, Rh-, Hp1-2
Father:
a. [ ] A1, N, Rh-, Hp 1-2
b. [ ] A1B, MN, Rh+, Hp 1-2
c. [X] A1B, M, Rh+, Hp 2-2
d. [ ] A1, N, Rh-, Hp 2-2
e. [ ] A1, N, Rh+, Hp 1-2
Mother: B, N, Rh+, Se, Hp1-1
Child: O, MN, Rh-, se, Hp1-2
Father:
a. [ ] B, N, Rh+, Se, Hp1-1
b. [ ] O, N, Rh+, Se, Hp1-2
c. [ ] A2, M, Rh-, se, Hp1-1
d. [X] A1, M, Rh-, se, Hp2-2
e. [ ] A1B, MN, Rh+, Se, Hp2-2
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Human Genetics - CS
Bessisy Tamir 1143

Mother: A1B, Rh+, M, Hp 1-2
Child: A1, Rh-, MN, Hp 2-2
Father:
a. [ ] A1, Rh+, MN, Hp 1-1
b. [ ] O, Rh-, MN, Hp 1-2
c. [ ] A2B, Rh-, M, Hp 1-2
d. [X] A2, Rh+, N, Hp 2-2
e. [ ] B, Rh+, M, Hp 1-2
95) Which of the following characterize multiple action of gene?
a. [ ] panmixia
b. [X] pleiotropy
c. [ ] polymorphism
d. [ ] polyallelism
e. [ ] polygeny
96) Which of the following is not a characteristic of allele genes?
a. [ ] may be identical in homologous chromosomes
b. [ ] may interact with other genes
c. [ ] have a specific place in chromosome
d. [X] always determine a single trait
e. [ ] a gene may contain multiple alleles
97) What is a characteristic of gene linkage?
a. [ ] usually is complete
b. [ ] takes place when genes are located on different chromosomes
c. [X] takes place when genes are located on the same chromosomes
d. [ ] takes place between codominant genes
e. [ ] takes place only between dominant alleles
98) What is not a characteristic of chromosome map?
a. [X] one may contain genes from different chromosomes
b. [ ] closed genes are inherited together
c. [ ] unit of distance is centimorgan
d. [ ] the number of maps is the same as number of linkage groups
e. [ ] represents location of genes in chromosome
99) Chromosomal theory of inheritance was proposed by:
a. [ ] Hardy
b. [X] T. Morgan
c. [ ] Weinberg
d. [ ] N. Vavilov
e. [ ] G. Mendel
100) Gene mutations may be:
a. [ ] numeric
b. [ ] only recessive
c. [X] lethal
d. [ ] only somatic
e. [ ] phenotypic
101) Mutation cannot be:
a. [ ] chromosomal
b. [ ] gene
c. [X] phenotypic
d. [ ] point
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Human Genetics - CS
Bessisy Tamir 1143
e. [ ] genomic
102) Which mutation can be inherited?
a. [ ] somatic spontaneous
b. [ ] somatic induced
c. [ ] lethal
d. [X] generative
e. [ ] all of them
103) Which of the following does not change the quantity of genetic material?
a. [ ] duplication
b. [ ] deletion
c. [X] substitution
d. [ ] trisomy
e. [ ] polyploidy
104) Which formula represents polyploidy?
a. [ ] 2n+2
b. [ ] 2n
c. [ ] 2n+1
d. [X] 3n
e. [ ] 2n-1
105) Which of the following is not a structural chromosomal aberration?
a. [ ] deletion
b. [ ] duplication
c. [X] monosomy
d. [ ] translocation
e. [ ] inversion
106) Which of the following kariotype cannot be in Turner syndrome?
a. [ ] 46,X,i(Xq)
b. [ ] 45,X
c. [X] 47,XXX
d. [ ] 46,XX/45,X
e. [ ] 46,X,Xp-
107) Which of the following mutations cannot be in newborns?
a. [ ] 47,XY,+1
b. [ ] 45,XO
c. [ ] 47,XYY
d. [X] 45,XX,-21
e. [ ] 47,ХХХ
108) Which of the following is an equilibrated chromosomal mutation?
a. [ ] 46,X,i(Yq)
b. [X] 45,XY,rob(13;21)
c. [ ] 46,XX,9q-
d. [ ] 46,XX,16qh+
e. [ ] 47,XY,+18
109) Which of the following is a non-equilibrated chromosomal mutation?
a. [ ] 45,XX,rob(21;21)
b. [ ] 46,XY,1qh+
c. [ ] 46,XY,inv(4)(q13q23)
d. [ ] 46,XY,t(2;8),(q13;q12)
e. [X] 46,XX,r(5),(q15q35)
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110) Which karyotype is associated with Edward's syndrome?

a. [ ] 47, XY,+21
b. [ ] 47, XXY
c. [ ] 47, XX,+13
d. [X] 47, XY,+18
e. [ ] 45,XX, rob(13;21)
111) Which karyotype is associated with Patau syndrome?
a. [ ] 47, XX,+18
b. [ ] 47, XYY
c. [X] 47, XY,+13
d. [ ] 46, XX, 5p-
e. [ ] 47, XXX
112) Which of the following rearrangements is not a mutation?
a. [X] combinative
b. [ ] chromosomal
c. [ ] gene
d. [ ] genomic
e. [ ] somatic
113) Which of the following karyotypes does correspond to the Kleinfelter syndrome?
a. [X] 47,XXY
b. [ ] 47, XYY
c. [ ] 46, XXY
d. [ ] 47, XXX
e. [ ] 45,X
114) Which of the following is viable monosomy in human?
a. [ ] monosomy 13
b. [ ] monosomy 21
c. [X] monosomy X
d. [ ] monosomy Y
e. [ ] monosomy 3
115) Which of the following karyotypes does correspond to the Turner syndrome?
a. [ ] 47,XXY
b. [ ] 47, XYY
c. [ ] 46, XXY
d. [ ] 47, XXX
e. [X] 45,X
116) A man with Klinefelter syndrome has genotype Xg(a+). His mother is Xg(a-) and his father is
Xg(a+). Determine, when and where did occur gonosome non-disjunction in meiosis:
a. [X] non-disjunction in meiosis I, paternal
b. [ ] non-disjunction in meiosis II, paternal
c. [ ] non-disjunction in meiosis I, maternal
d. [ ] non-disjunction in meiosis II, maternal
e. [ ] post-zygotic non-disjunction
117) Choose the most frequent clinical trait in case of Klinefelter syndrome:
a. [ ] high stature
b. [ ] gynecomasty
c. [ ] poor beard growth;
d. [X] testicular atrophy
e. [ ] mental retardation
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118) Which from the following may lead to structural gene transcription block?
a. [ ] non-sense mutation
b. [ ] deletion of one codon
c. [ ] frame-shift mutation
d. [X] deletion in TATA box
e. [ ] deletion of one exon
119) Which of the following is not a gene mutation?
a. [ ] lethal
b. [ ] dynamic
c. [X] aneuploidy
d. [ ] amorphic
e. [ ] isomorphic
120) Which of the following is not a characteristic of gene mutations?
a. [X] may be aneupoidy
b. [ ] may be produced in promoter
c. [ ] may appear as result of non-equal crossing-over
d. [ ] the sequence of nucleotides is changed
e. [ ] may be point
121) Which of the following is not a characteristic of modifications?
a. [ ] modifications have adaptive role
b. [ ] changes are produced in genetic material
c. [X] changes are determined by norm of reaction
d. [ ] changes induced by environment factors
e. [ ] changes in phenotype
122) Which mutation may be inherited?
a. [ ] mutations cannot be inherited
b. [ ] lethal
c. [X] generative
d. [ ] somatic induce
e. [ ] spontaneous somatic
123) Which of the following is not a characteristic of human chromosomal mutations?
a. [X] usually have an adaptive role
b. [ ] appear in somatic cells
c. [ ] are induced by mutagens
d. [ ] may be structural
e. [ ] may be numeric
124) Which mutation does not exist?
a. [X] phenotypic
b. [ ] somatic
c. [ ] that are inherited
d. [ ] recessive
e. [ ] lethal
125) Structural chromosomal mutations do not include:
a. [ ] duplication
b. [X] monosomy
c. [ ] deletion
d. [ ] translocation
e. [ ] inversion
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126) Frame-shift mutations are produced by:

a. [X] insertion of two nucleotides
b. [ ] duplication of three nucleotides
c. [ ] substitution
d. [ ] inversion
e. [ ] loss of six consecutive nucleotides
127) Splicing mutations are caused by:
a. [ ] mutation at 3' end of gene
b. [ ] mutation is leader sequence
c. [X] mutations at limit between exon and intron
d. [ ] mutations in exon
e. [ ] mutations in promoter
128) which of the following may stop transcription?
a. [ ] deletion of leader sequence
b. [X] deletion of TATA-box
d. [ ] deletion of a codon
e. [ ] nonsense mutation
129) What mutation may provoke loss of one amino acid?
a. [ ] three nucleotide expansion
b. [X] deletion of three adjacent nucleotides
c. [ ] insertion of one codon
d. [ ] deletion of one nucleotide
e. [ ] substitution
130) Polyploidy represents:
a. [ ] a modification
b. [ ] a structural chromosomal mutation
c. [X] a genomic mutation
d. [ ] an example of combinative variability
e. [ ] a gene mutation
131) Which type of inheritance is characterized by expressivity and penetrance?
a. [X] autosomal dominant
b. [ ] autosomal recessive
c. [ ] gonosomal dominant
d. [ ] gonosomal recessive
e. [ ] codominant
132) Which of the following criteria do not characterize dominant inheritance?
a. [ ] high frequency in the family
b. [ ] expression in each generation
c. [X] if both parents are healthy they can have affected children
d. [ ] if both parents are affected they can have healthy children
e. [ ] if both parents are healthy they can have healthy children
133) Which of the flowing represents a criterion for recognition of gonosomal recessive inheritance?
a. [ ] the continuity of the inheritance in each generation
b. [ ] if both parents are affected, they may have healthy children
c. [ ] an affected father may have both affected and healthy sons
d. [X] healthy mother always has healthy sons
e. [ ] if both parents are healthy, only sons can be affected
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134) In which type of inheritance the frequency of affected children significantly increases in case of
consanguineous marriages?
a. [ ] autosomal dominant
b. [X] autosomal recessive
c. [ ] gonosomal dominant
d. [ ] gonosomal recessive
e. [ ] cytoplasmatic (mitochondrial)
135) Which of the following represents a criterion of recognition for gonosomal dominant diseases?
a. [ ] affected father may have affected and healthy daughters
b. [X] affected father always have affected daughters
c. [ ] affected father have affected sons
d. [ ] affected parents may have healthy children: both boys and girls
e. [ ] two healthy parents may have affected children
136) Which of the following represents a criterion of recognition for recessive diseases?
a. [ ] high frequency in the family
b. [ ] the continuity of the inheritance
c. [ ] affected parents may have healthy children
d. [X] two healthy parents may have affected children
e. [ ] affected father always has affected daughters
137) Which of the following represents a criterion of recognition for dominant diseases?
a. [ ] low frequency in the family
b. [ ] affected persons are not present in each generation
c. [X] affected parents have always affected children
d. [ ] two healthy parents may have affected children
e. [ ] high frequency in the family
138) Which of the following affirmations concerning abnormal monofactorial traits is wrong?
a. [ ] they represent results of mutations in gene
b. [ ] the phenotype depends on a single gene
c. [X] the phenotype depends on many genetic and environment factors
d. [ ] they are pure hereditary traits
e. [ ] are inherited according to Mendel lows
139) Which of the following affirmations concerning criteria for autosomal dominant inheritance is wrong?
a. [ ] continuity in inheritance from one generation to another one
b. [ ] high frequency in the family
c. [X] two healthy parents may have affected children
d. [ ] two affected parents may have healthy children
e. [ ] the frequency of affected children is not influenced if parents are relatives
140) Multifactoiral diseases:
a. [ ] have a monogenic determination
b. [ ] are independent on environment factors
c. [ ] have a discontinuous distribution
d. [ ] are produced by a mutation in a single gene
e. [X] are produced by mutations in a different non-allelic genes
141) Genealogical inheritance of abnormal monogenic traits:
a. [ ] is produced according to Mendel lows
b. [ ] is produced through somatic cells
c. [ ] is produced exclusively by autosomal genes
d. [X] is produced exclusively by X-linked genes
e. [ ] depends on environment factors
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142) Which of the following affirmations concerning criteria for X-dominant inheritance is wrong?
a. [ ] two affected parents may have healthy sons
b. [X] disease may be inherited from father to son
c. [ ] if mother is healthy and father is affected only sons will be healthy
d. [ ] heterozygous affected mother may have healthy children
e. [ ] affected father affected has only affected daughters and healthy sons
143) The disease determinate by mutation in one gene is called:
a. [ ] congenital
b. [X] monogenic
c. [ ] autosomal
d. [ ] dominant
e. [ ] recessive
144) What diseases are produced as a result of interaction of genetic and environmental factors?
a. [ ] chromosomal diseases
b. [X] multifactorial diseases
c. [ ] monogenic diseases
d. [ ] enzymopathies
e. [ ] X-linked diseases
145) In which type of inheritance the gene has phenotypic expression only if two identical alleles are present?
a. [X] autosomal recessive
b. [ ] autosomal dominant
c. [ ] X-linked
d. [ ] multifactorial
e. [ ] Y-linked
146) Diseases expressed in newborn are called:
a. [X] congenital
b. [ ] monogenic
c. [ ] autosomal
d. [ ] dominant
e. [ ] recessive
147) In a family both parents are healthy and the first child has phenilcetonuria (autosomal recessive
disease). What is the risk for disease for the next child?
a . [ ] 5%
b. [ ] 10%
c. [X] 25%
d. [ ] 50%
e. [ ] 75%
148) In a family both parents are healthy the first child has mucoviscidosis (autosomal recessive disease)
and the second child is healthy. What is the risk for disease for the next child?
a . [ ] 5%
b. [ ] 10%
c. [X] 25%
d. [ ] 0%
e. [ ] 50%
149) In a family the mother is a carrier of Duchenne muscular dystrophy gene (X-liked disease), and the
father is healthy. What is the risk for disease for the next child?
a. [ ] 5%
b. [ ] 10% for both sexes
c. [ ] 25% just for daughters
d. [ ] 0%
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e. [X] 50% just for sons

150) The frequency of what diseases will increase if mother is older than 35?
a. [ ] multifactorial
b. [ ] X-recessive
c. [ ] autosomal recessive
d. [ ] autosomal dominant
e. [X] chromosomal
151) In a family mother has phenylketonuria (autosomal recessive disease), and father is homozygous by
normal allele. What is the risk for disease for the next child?
a . [ ] 5%
b . [ ] 10%
c. [ ] 25%
d. [X] 0%
e. [ ] 50%
152) For what type of inheritance consanguinity increases the risk for diseases?
a) [ ] multifactorial
b) [X] autosomal recessive
c) [ ] autosomal dominant
d) [ ] cytoplasmic (mitochondrial)
e) [ ] X-dominant
153) Marfan syndrome is inherited as:
a) [X] autosomal dominant
b) [ ] autosomal recessive
c) [ ] X-recessive
d) [ ] X-dominant
e) [ ] polygenic
154) In a family the father has Marfan syndrome (autosomal dominant disease) and mother is healthy.
What is the risk for disease in this family?
a . [ ] 5%
b . [ ] 10%
c. [ ] 25%
d. [X] 50%
e. [ ] 75%
155) In a family the mother is healthy (her parents are healthy too), and the father has hemophilia (X-
linked recessive disease). What is the risk for disease in this family?
a. [ ] 50% for daughters only
b. [ ] 50% for both genders
c. [ ] 25% for sons
d. [X] 0% for both genders
e. [ ] 50% for sons only
156) Genic diseases are determinate by:
a. [ ] chromosomal deletion
b. [ ] increased number of chromosomes
c. [ ] a reciprocal translocation
d. [X] a gene mutation
e. [ ] Robertson's translocation
157) The cause of monogenic hereditary diseases can be?
a. [ ] structural chromosomal abnormalities
b. [ ] number chromosomal abnormalities
c. [ ] Robertson's translocation
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d. [X] gene's mutation

e. [ ] the influence of environment's factors
158) The cause chromosomal disease is:
a. [ ] gene mutation
b. [ ] somatic mutation
c. [ ] mitochondrial mutation
d. [X] genome mutation
e. [ ] "frame shift" mutation
159) Which of the following cannot be used for prenatal diagnosis?
a. [ ] ultrasonography
b. [ ] amniocentesis
c. [X] dermatoglyphics analysis
d. [ ] phetoscopy
e. [ ] alpha fetoprotein
160) Which of the following measures is not reported to the hereditary diseases prophylaxis?
a. [ ] identification of some recessive alleles' carriers
b. [X] identification of some dominant alleles carriers
c. [ ] identification of poised (equilibrated) translocation's carriers
d. [ ] reduction of the parent's age of reproduction
e. [ ] avoidance of consanguineous marriages
161) Which of the following is not a characteristic of genetic disorders?
a. [ ] inheritance
b. [ ] familial aggregation
c. [ ] prenatal determination
d. [ ] congenital manifestation
e. [X] always is present in newborn
162) Roberts's translocation:
a. [ ] is the most common translocation found in man
b. [ ] represents the fusion of short arms of metacentric chromosomes
c. [ ] represents the fusion of long arms of submetacentric chromosomes
d. [ ] represents the fusion of short arms of acrocentric chromosomes
e. [X] represents the fusion of long arms of acrocentric chromosomes
163) Which of the following karyotypes doesn't refer to Turner syndrome?
a. [ ] 45,X
b. [ ] 45,X/46,XX
c. [X] 46,XXq+
d. [ ] 46,XXq-
e. [ ] 46,XXp-
164) Which of the following karyotypes doesn't refer to Klinefelter syndrome?
a. [ ] 47,XXY
b. [X] 47,XYY
c. [ ] 48,XXXY
d. [ ] 48,XXYY
e. [ ] 49,XXXXY
165) Which of the following karyotypes doesn't refer to Down syndrome?
a. [ ] 47,XX,+21
b. [ ] 47,XY,+21
c . [X] 45,XX,rob (21;21)
d . [ ] 46,XX/47,XX,+21
e. [ ] 46,XY/47,XY,+21
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166) Phenocopy is an example of:

a. [ ] recombination
b. [ ] mutation
c. [X] modification
d. [ ] ontogenetic variability
e. [ ] translocation
167) Genocopy is an example of:
a. [ ] recombination of allele genes
b. [X] mutation of non-allele genes
c. [ ] mutation of allele genes
d. [ ] ontogenetic variability
e. [ ] modification
168) Which of the following is not a chromosome disease?
a. [ ] Patay syndrome
b. [X] Marfan syndrome
c. [ ] Down syndrome
d. [ ] Edward's syndrome
e. [ ] Turner syndrome
169) Which of the following is a monogenic disease?
a. [ ] Patay syndrome
b. [X] Marfan syndrome
c. [ ] Down syndrome
d. [ ] Edward's syndrome
e. [ ] Turner syndrome
170) Which of the following is not a characteristic of congenital anomalies?
a. [X] are produced after birth
b. [ ] are produced during embryogenesis
c. [ ] may be isolated or multiple
d. [ ] may appear as result of phenocopy
e. [ ] are produced by genetic or environmental factors
171) Secondary prophylaxis refers to the:
a. [X] early identification of genetic disorder
b. [ ] later identification of genetic disorder
c. [ ] prenatal identification of genetic disorder
d. [ ] avoiding of the production of genetic disorders
e. [ ] treatment of genetic disorder
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1) Human genetics studies:

a. [X] phenomena of inheritance and variability in human populations
b. [X] laws of transmission of normal and pathological traits
c. [ ] structure of cell organelles
d. [ ] common human diseases
e. [X] role of genetic predisposition and environmental factors in appearance of diseases
2) Non repetitive sequence:
a. [ ] are dispersed and repeated a small number of times
b. [ ] are very short
c. [X] are unique and represented in a single copy
d. [ ] can make up gene families
e. [X] consist of exons and intron
3) Moderately repetitive sequences:
a. [ ] are short and usually repeated as a tandem array
b. [X] make up the families of genes
c. [ ] participate in regulation of gene expression
d. [X] form transposons
e. [X] have structural function
4) Highly repetitive sequences:
a. [ ] are short and usually repeated as a tandem array
b. [X] are represented by structural genes
c. [ ] make up gene families
d. [X] may be used as a molecular markers
e. [X] have structural role
5) Which of the following describe transposons?
a. [ ] are segments of DNA that can't move in genome
b. [ ] they are sometimes called "jumping genes"
c. [X] they may be of two types: DNA transposons and retrotransposons
d. [X] they may cause mutations
e. [X] they may change the amount of DNA in the genome
6) Which of the following are shared by mitochondrial genome?
a. [X] it is a double-stranded circular molecule of DNA
b. [ ] it is a double stranded linear molecule of DNA
c. [X] its replication takes place from two discrete origins
d. [X] it is very compact
e. [ ] it has introns
7) Human genetics studies:
a. [X] the structure of genes, chromosomes, karyotype
b. [X] heredity and variability
c. [X] steps of gene expression
d. [ ] human diseases prophylaxis
e. [ ] molecular mechanisms of evolution
8) Which of the following are components of genetic apparatus?
a. [ ] nucleus
b. [X] ribosomes
c. [X] cell center
d. [X] mitochondria
e. [ ] lysosomes
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9) Heredity:
a. [X] is assured by property of DNA to replicate
b. [X] is determined by stability of genetic program
c. [X] is universal property to keep traits
d. [ ] assures adaptation in new life condition
e. [X] explains "family" traits
10) Heredity represents:
a. [X] the property of organisms to transmit traits to offspring
b. [X] the property of organisms to keep traits along generations
c. [X] the property assured by DNA replication
d. [ ] the property assured by random segregation of chromosomes in meiosis
e. [ ] the property assured by crossing-over
11) Which of the following chromosomes have satellites or arm p?
a. [ ] 1, 9, 16, 19
b. [ ] 14, 15, 16, 17, 18
c. [X] 13, 14, 15
d. [X] 21, 22
e. [ ] 21, 22, Y
12) Which of the following chromosomes have no secondary constrictions on p arm?
a. [X] 1, 9, 16, 19
b. [X] 1, 9, 16, Y
c. [ ] 1, 9, 6, 19
d. [ ] 21, 22
e. [ ] 1, 19, 21
13) Metacentric chromosomes:
a. [X] have p/q ratio =1/1
b. [ ] all of them contain satellites in long arm
c. [X] have centromere index equal with 46-49
d. [ ] are chromosomes 1,3,17,Y
e. [X] are he chromosomes 1,3,19,20,16
14) Submetacentric chromosomes:
a. [ ] have p/q ratio = 1/5
b. [X] have p/q ratio =1/3
c. [X] are chromosomes of group C
d. [ ] are chromosomes of group F
e. [X] are chromosomes of group B
15) Acrocentric chromosomes:
a. [X] have p/q ratio = 1/5
b. [ ] have p/q ratio =1/3
c. [X] the chromosomes of group G
d. [ ] the chromosomes of group F
e. [ ] the chromosomes of group B
16) The chromosome 16:
a. [X] it is a medium chromosome
b. [X] may contain a secondary constriction
c. [X] it is a metacentric chromosome
d. [ ] it is from F group
e. [ ] it is an acrocentric chromosome
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17) Chromosome pairs differ by:

a. [X] size
b. [X] shape
c. [X] number of genes
d. [ ] presence of DNA molecules
e. [X] presence of secondary constriction
18) Which of the following are shared by G- banding?
a. [X] Giemsa dye is used for staining
b. [ ] Giemsa or fluorescent dyes are used for staining
c. [ ] positive bands - euchromatin
d. [ ] negative bands - heterochromatin
e. [X] positive bands - heterochromatin
19) Which of the following are right for Q- banding?
a. [ ] Giemsa or fluorescent dyes are used for staining
b. [X] quinacrin is used for staining
c. [X] positive bands - heterochromatin
d. [X] negative bauds - euchromatin
e. [ ] CARR is used for staining
20) Which of the following are shared by R- banding?
a. [X] Giemsa or fluorescent dyes are used for staining
b. [ ] CARR is used for staining
c. [ ] positive bands - heterochromatin
d. [X] positive bands - euchromatin
e. [X] negative bands - heterochromatin
21) What are the practical role of C - banding?
a. [X] exact identification of chromosomes
b. [ ] identification of structural abnormalities
c. [ ] exact identification of number of chromosomes
d. [X] exact identification of centromere region
e. [ ] exact identification of telomeres
22) What are the practical role of T - banding?
a. [ ] determination of sex chromatin
b. [X] exact identification of chromosomes
c. [ ] exact identification of centromere region
d. [X] exact identification of telomeres
e. [ ] exact identification of nucleolus
23) Which of the following are not used for Q- banding?
a. [X] CARR
b. [X] Giemsa dye
c. [ ] quinacrin
d. [ ] fluorescent dye
e. [X] orcein
24) Choose the common elements of metaphase chromosome:
a. [X] two chromatids;
b. [ ] satellites
c. [X] centromere
d. [X] telomere
e. [ ] secondary constriction in q-arm
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25) Which of the following describe female caryotype?

a. [ ] all chromosomes are shorter than in men
b. [X] it contains 22 pairs of autosomes and 2 sex chromosomes
c. [X] it includes 7 groups of chromosomes
d. [X] it contains chromosomes of different length
e. [ ] sex chromosomes are different
26) Which of the following describe male gamete karyotype?
a. [ ] it contains X and Y chromosomes
b. [X] it contains either X or Y chromosomes
c. [ ] it contains 22 pairs of autosomes
d. [X] it contains 22 autosomes
e. [X] it contains haploid number of chromosomes
27) Karyotype of somatic male cells contains:
a. [ ] identical sex chromosomes
b. [X] X and Y chromosomes
c. [X] 22 pairs of autosomes
d. [ ] haploid number of chromosomes
e. [ ] 22 autosomes
28) Karyotype of somatic female cells contains:
a. [X] identical sex chromosomes
b. [ ] X and Y chromosomes
c. [X] 22 pairs of autosomes
d. [ ] haploid number of chromosomes
e. [ ] 22 autosomes
29) Which of the following groups include metacentric chromosomes?
a. [X] A
b. [ ] B
c. [ ] G
d. [X] F
e. [ ] C
30) Which of the following groups include acrocentric chromosomes?
a. [ ] B
b. [ ] C
c. [X] D
d. [ ] A
e. [X] G
31) Sex chromosomes:
a. [ ] are the same in men
b. [X] are the same in women
c. [X] determine gender of child
d. [ ] are presents in sexual cells only
e. [ ] contain only genes, that determine sex
32) Chose the karyotypes of persons with normal phenotype:
a. [X] 46,XY
b. [X] 46,XY,9qh+
c. [ ] 45,XY,-9
d. [ ] 44,XY,5p-
e. [X] 46,XY,inv (4)(p15q13)
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33) Chose the karyotypes of persons with normal phenotype:

a. [X] 46,XY
b. [ ] 46,XX,1q+
c. [ ] 46,XX,9q-
d. [X] 46,XX 16qh+
e. [X] 45,XY,rob (14;21)
a. [X] 47,XX,+21
b. [X] 46, iso(Xp)Y
c. [X] 46,XY,1q-,9qh+
d. [ ] 46,XY,16qh-
e. [X] 46,X, r(X)
a. [X] 47,XX,+13
b. [ ] 45,XY, rob (14;21)
c. [X] 46, XX, rob (13;21),+21
d. [ ] 46,XY,16qh+
e. [ ] 46,XX,9qh
36) X chromosome:
a. [ ] contains only genes for female development
b. [ ] always has maternal origin
c. [X] X-linked diseases often affect males
d. [ ] X polysomies in men are always lethal
e. [X] X trisomy in women are viable
37) All the chromosomes contain:
a. [X] two chromatids
b. [ ] satellites
c. [X] centromere
d. [ ] secondary constriction on long arm
e. [X] telomeres
38) Which of the following characterize male karyotype?
a. [ ] sex chromosomes have the same length
b. [ ] there are 5 acrocentric chromosomes
c. [X] contains 46 chromosomes
d. [X] contains chromosomes with different length
e. [X] contains metacentric, acrocentric and submetacentric chromosomes
39) Which of the following characterize female karyotype?
a. [ ] sex chromosomes have the same length
b. [ ] here are 5 acrocentric chromosomes
c. [X] the chromosomes are distributed in 7 groups
d. [X] consists of 22 pairs of autosomes and two sexual chromosomes
e. [ ] all the chromosomes are shorter than in males
40) The karyotype:
a. [ ] changes in karyotype always lead to abnormal phenotype
b. [X] males and females have the same number of chromosomes
c. [X] is characterized by a constant number of chromosomes
d. [ ] is represented by chromosomes from a gamete
e. [X] is represented by chromosomes from a diploid cell
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41) Which of the following errors are always lethal?

a. [X] triploidy
b. [ ] trisomy
c. [X] nullisomy
d. [ ] deletions
e. [X] autosomal monosomy
42) For which of karyotypes is true the following list of F bodies: 0, 1, 2, 0?
a. [X] 45,X; 46,XY; 47,XYY; 48, XXXX
b. [ ] 46,XX; 47,XXX; 47,XXY; 45,X
c . [X] 47,XXX; 47,XXY; 48,XXYY; 46,XX
d . [ ] 46,XY; 47,XXY; 47,XYY; 47,XXX
e. [ ] 45,X; 46,XX; 48,XXXY; 46,XY
43) Which of the following describe Barr body?
a. [X] normally one X chromosome is inactivated in interphase
b. [ ] their number is equal with the number of X chromosomes
c. [X] it is a facultative heterochromatin
d. [ ] it corresponds to the number of Y chromosomes
e. [X] it is about 1 µm in diameter
44) Which of the following corresponds to the karyotype 47,XX, iso(Xp)?
a. [X] woman with trisomy
b. [ ] woman with monosomy
c. [X] two Barr bodies: 1 µm and 0,5 µm respectively
d. [ ] two fluorescent bodies
e. [ ] two normal Barr bodies
45) Examination of Barr bodies is useful to:
a. [X] determine the gender in prenatal stage
b. [X] determine the gender of a person with ambiguous genitalia
c. [ ] defect gonosomal polisomies
d. [ ] determine the number of Y chromosomes
e. [X] determine the number of X chromosomes
46) A person with a normal phenotype and one Barr body has the following karyotype:
a. [X] 46,XX
b. [ ] 47,XXY
c. [X] 45,XX, rob(14,21)
d. [ ] 46,XX, del 8q
e. [ ] 45, X
47) Which of the following are true concerning Y chromatin?
a. [X] it is absent in females
b. [X] it is present in person with Klinefelter syndrome
c. [X] it is present in all males
d. [ ] the persons with karyotype 47,XYY contain a single F body
e. [ ] the number of Y-chromosomes is identical with number of Barr body
48) Which of the following announcements concerning X chromatin are true?
a. [ ] represents a heterochromatin body in sperm cells
b. [X] in mucosa cells is attached to the inner nuclear membrane
c. [ ] it is intensely colored with quinacrine
d. [X] it is present only in persons containing more then one X chromosome
e. [ ] in all cells is inactivated the same X chromosome
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49) Analysis of X-chromatin assures:

a. [ ] identification of persons with Down syndrome
b. [X] identification of gender
c. [ ] identification of karyotype
d. [X] identification of the genetic gender in children with ambiguous genitalia
e. [X] identification of persons with Klinefelter syndrome
50) Which of the following are true concerning F chromatin?
a. [X] it is intensely stained with fluorescent dyes
b. [ ] may be identified during cell division
c. [X] it is present in all male peoples
d. [ ] it is present in egg cells
e. [ ] may be identified in all sperm cells
51) Which of the following correspond to trisomy X?
a. [ ] one Barr body
b. [ ] three Barr bodies
c. [X] two 1 ฀ m Barr bodies
d. [ ] 0,5 ฀ m Barr body
e. [X] absence of F body
52) Which of the following persons may contain 47 chromosomes and a single F body?
a. [ ] a man with XYY syndrome
b. [ ] a normal man
c. [X] a man with Down syndrome
d. [ ] a woman with trisomy X
e. [X] a man with Klinefelter syndrome
53) Which of the following correspond to the karyotype 46,Xi(Xp)?
a. [X] one Barr body
b. [ ] two Barr bodies
c. [ ] a normal woman
d. [X] a woman with Turner syndrome
e. [ ] a woman with partial trisomy
54) What zygotes will result after fertilization if in both gametes a non-disjunction will occur during meiosis II?
a. [X] 47,XYY
b. [X] 47,XXX
c. [X] 48,XXXX
d. [X] 48,XXYY
e. [ ] 48,XXXY
disjunction during meiosis I and meiosis II in mother?
a. [ ] 48,XXYY
b. [X] 48,XXXY
c. [ ] 49,XXXXY
d. [ ] 49,XXXXX
e. [X] 47,XXY
56) Choose the possible mechanisms of tetrasomy 48,XXYY:
a. [ ] non-disjunction of X chromosome during meiosis I and II
b. [ ] gonosomal non-disjunction in ovogenesis and spermatogenesis in meiosis I
c. [X] double gonosomal non-disjunction in ovogenesis
d. [ ] gonosomal non-disjunction in spermatogenesis during meiosis I and non-disjunction of Y chromosome during meiosis II
e. [X] non-disjunction in gametes during meiosis II
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57) Gonosomal trisomies are viable because:

a. [ ] both gonosomes contain only genes involved in sexual development
b. [ ] there are few genes in X chromosome
c. [X] Y chromosome contains a few active genes
d. [X] whole chromosomes may be inactivated
e. [ ] both gonosomes contain a small number of genes
Mother: A1B, MN, Rh-, Hp 1-2
Child: B, N, Rh+, Hp 2-2
Father:
a. [ ] A1, N, Rh-, Hp 1-2
b. [X] A1B, MN, Rh+, Hp 1-2
c. [ ] A1, N, Rh-, Hp 2-2
d. [X] A1, N, Rh+, Hp 1-2
e. [ ] A1B, M, Rh+, Hp 2-2
59) Allele genes:
a. [X] may be present in many forms
b. [ ] determine the formation of different traits
c. [X] have the same position in a homologous chromosomes
d. [X] determine the formation of one trait
e. [X] segregate during meiosis in different gametes
60) Which of the following are not a type of non-allele interactions?
a. [ ] complementarity
b. [ ] epistasis
c. [X] multiple allelism
d. [X] pleiotropy
e. [X] incomplete dominance
61) Epistasis:
a. [X] is a type of non-allele interaction
b. [X] may be in two forms: dominant and recessive
c. [X] one non-allele gene masks the expression of another non-allele gene
d. [X] Bombay's phenotype is a example of this interaction
e. [ ] one allele gene masks the expression of another allele gene
62) Genomic imprinting:
a. [X] is a different expression of gene depending on of parental origin
b. [ ] it appears in result of errors in meiosis
c. [X] it has a monoallelic expression
d. [X] is a functional gene modification
e. [ ] is a structural gene modification
63) Penetrance:
a. [X] it refers to dominant traits
b. [ ] it refers to severity of traits
c. [X] it may be complete and incomplete
d. [ ] it is only complete
e. [X] it represents the frequency of gene manifestation into the heterozygous genotype
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64) Genotype may be:

a. [X] dominant
b. [ ] homozygous
c. [ ] recessive
d. [X] hemizygous
e. [X] heterozygous
65) Phenocopy:
a. [ ] is the result of genomic imprinting;
b. [ ] is the result of locus heterogeneity
c. [X] it appears on influence of environment factors
d. [X] is a non-hereditary phenotypic modification
e. [ ] it mimics an abnormal hereditary trait in normal phenotype
66) Mother has O blood group and her child - A1. What groups may have father?
a. [ ] A2
b. [X] A1B
c. [ ] O
d. [ ] A2B
e. [X] A1
Mother: A1, M, Rh-, se
Child: B, MN, Rh-, se
Father:
a. [X] A2, M, Rh+, Se
b. [ ] A1B, N, Rh-, Se
c. [X] A1, M, Rh+, se
d. [ ] B, N, Rh+, Se
e. [ ] A2B, N, Rh-, se
Mother: A1, M, Rh-, se
Child: B, MN, Rh+, se
Father:
a. [X] A2, M, Rh+, Se
b. [X] A1B, N, Rh-, Se
c. [X] A1, M, Rh-, se
d. [X] A2B, M, Rh-, se
e. [ ] B, N, Rh+, Se
Mother: B, M, Rh+, Hp 1-1
Child: O, MN, Rh-, Hp 1-2
Father:
a. [ ] A1, N, Rh-, Hp 1-2
b. [X] A1B, M , Rh+, Hp 2-2
c. [ ] A1, N, Rh-, Hp 2-2
d. [X] A1B, MN, Rh+, Hp 1-2
e. [X] A2B, N, Rh-, Hp 1-1
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70) Which of the following are human monogenic traits?

a. [ ] height
b. [ ] skin colors
c. [X] ABO blood typing system
d. [X] Rh factor
e. [ ] tissue antigens (HLA)
71) Polygenic traits:
a. [X] have a continuous distribution in human population
b. [ ] are determined by series of allelic genes
c. [X] are determined by non-allelic genes form different chromosomes
d. [X] genes have a cumulative (additive) effect
e. [X] are multifactorial
72) Which of the following are polygenic human traits?
a. [ ] blood type system ABO
b. [ ] Rh-factor
c. [X] eye color
d. [X] arterial tension
e. [X] weight
73) The melanin quantity in skin:
a. [ ] is a monogenic trait
b. [ ] is determined by allelic genes
c. [ ] is determined by 2 or more genes located in the same chromosome
d. [X] is determined by 2-6 non-allelic genes
e. [X] is distributed continuously in human population
74) Which of the following are not polygenic human traits?
a. [X] blood type system ABO
b. [X] Rh-factor
c. [ ] eye color
d. [ ] arterial tension
e. [ ] weight
75) Which of the following correspond to chromosomal theory of inheritance?
a. [ ] all the genes from a linkage group are inherited separately
b. [X] between homologous chromosomes crossing-over may occur
c. [X] genes from a linkage group are inherited together
d. [X] genes located in one molecule of DNA represent a linkage group
e. [X] genes are located in chromosomes
76) Which of the following characterize both ABO and HLA systems?
a. [ ] are determined by a pair of alleles
b. [X] are 100% hereditary traits
c. [ ] have a multigenic determination
d. [X] assure human genetic polymorphism
e. [X] poliallelism
77) Monogenic traits have the following characteristics:
a. [ ] always are 100% hereditary traits
b. [ ] mostly a determined by environment factors
c. [X] are mendelian traits
d. [X] are determined by allelic genes
e. [X] are determined by expression of two alleles
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78) Characteristics of Bombay phenotype:

a. [X] the phenotype is similar to O blood group
b. [X] always is associated with genotype Sese
c. [ ] represents an example of epistasy between Se and ABO genes
d. [X] absence of ABO antigens on surface of erythrocytes
e. [ ] presence of anti-A and anti-B in blood serum
79) Imprinting is characterized by:
a. [ ] only paternal allele is inactivated
b. [ ] both alleles are inactivated
c. [ ] uniparenatl disomy leads to abnormal development
d. [X] is determined by gene inactivation during gametogenesis
e. [X] monoallelic gene expression
80) Monogenic traits have the following characteristics:
a. [X] may be 100% hereditary traits
b. [X] may be determined by multiple alleles
c. [ ] are determined by non-allelic genes located in homologous loci
d. [ ] are determined by allele genes located in different loci
e. [X] are mendelian
81) Which of the following are characteristics of genomic imprinting?
a. [X] imprinted allele depends on maternal or paternal origin
b. [ ] is assured by methilation of some DNA sequences
c. [X] monoallelic gene expression
d. [X] selective inactivation of some genes
e. [ ] selective activation of some genes
82) Non-allele gene interactions are represented by:
a. [ ] co-domination
b. [X] gene complementarity
c. [X] epistasy
d. [ ] intermediate dominancy
e. [ ] polyallelism
83) Characteristics of dominant alleles:
a. [ ] dominant alleles cannot produce diseases
b. [X] is always expressed
c. [X] expression is not depending on the second allele
d. [ ] are expressed only in presence of an identical allele
e. [X] are expressed in both homo- and heterozygous
84) Genes:
a. [X] may be allele or non-allele
b. [ ] always are present in pairs
c. [ ] may be homologous or non-homologous
d. [X] may be dominant or recessive
e. [X] determine traits
85) The genotype may be:
a. [X] heterozygous
b. [X] homozygous
c. [ ] recessive
d. [X] hemizygous
e. [ ] dominant
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86) Which of the following traits have polygenic determinism?

a. [ ] secretor status
b. [ ] Rh blood group
c. [X] height
d. [X] blood pressure
e. [X] skin color
87) Mutations may be:
a. [X] hypermorphic
b. [X] hypomorphic
c. [ ] gene
d. [X] amorphic
e. [ ] only somatic
88) Which of the following are gene mutations?
a. [ ] translocation
b. [X] substitution
c. [ ] monosomy
d. [ ] insertion
e. [X] transversion
89) Substitution in one gene may induce:
a. [X] missens mutation
b. [X] nonsense mutation
d. [ ] deletion
e. [X] amesens mutation
90) Which of the following mutations may be found in newborns?
a . [ ] 92, XXXX
b . [ ] 45, XY,-12
c . [X] 47, XY,+8
d. [X] 46, X, (Xq-)
e. [X] 45, X
91) Which of the following are non-equilibrated chromosomal errors?
a. [ ] 46,XY, r(10)(p15q22)
b. [ ] 45,XX, rob(14;21)
c. [ ] 46,XY, inv(9)(p14q23)
d. [X] 46,X,i(X)
e. [X] 46,XX,del(4)(P15฀ pter)
92) Which of the following errors are lethal?
a. [X] 69,XXX
b. [X] 45,Y
c. [X] 45,XY,-2
d. [ ] 46,XX, 9qh+
e. [ ] 47,XXY
a. [ ] X-linked
b. [ ] dominant
c. [X] induced
d. [ ] phenotypic
e. [X] dynamic
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a. [X] induced
b. [X] spontaneous
c. [ ] equilibrated
d. [ ] non-equilibrated
e. [X] somatic
95) Spontaneous mutations:
a. [ ] appear under influence of physical, chemical and biological factors
b. [X] may be errors during replication
c. [X] may determine the lethal genes appearance
d. [ ] have a constant frequency
e. [X] aren't predictable
96) Substitutions:
a. [ ] modify only one amino acid
b. [X] modify the group of amino acids
c. [X] may annul another mutation
d. [X] may block synthesis of one polypeptide chain
e. [X] may modify structure of promoter, exons, introns or termination sequences
97) Dynamic mutations:
a. [X] are characterized by instability
b. [X] depend on the cell division
c. [X] depend on the trinucleotide repeats number
d. [ ] determine differences in phenotypic manifestation in parents and offspring
e. [ ] occur only during oogenesis
98) Gene mutations:
a. [X] modify the structure and functions of gene
b. [X] may be in introns
c. [ ] may be only in exons
d. [X] change the reading frame
e. [ ] mutant protein is always inactive
99) Phenotypic variability:
a. [X] modifications of traits in reaction norm limits
b. [ ] modifications of traits out the limits of reaction norm
c. [X] has an adaptive role
d. [ ] may be produced only during the prenatal period of development
e. [X] appears during entire life
100) Which of the following characterize Turner syndrome?
a. [X] short stature
b. [X] primary amenorrhea
c. [X] neck of sphinx
d. [ ] testicular atrophy
e. [X] mental retardation
101) Man with Kleinfelter syndrome has genotype Xg(a+). His mother is Xg(a+) and his father is Xg(a-).
Determine, when and where did occur gonosome non-disjunction in meiosis:
a. [ ] non-disjunction in meiosis I, paternal
b. [ ] non-disjunction in meiosis II, paternal
c. [X] non-disjunction in meiosis I, maternal
d. [X] non-disjunction in meiosis II, maternal
e. [ ] post-zygotic non-disjunction
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102) Choose the clinical trait in case of Patau syndrome:

a. [ ] reduced fertility
b. [ ] high stature
c. [X] non-development of eyes
d. [ ] neck of sphinx
e. [X] polydactily
103) Which of the following does occur in newborn with Edward's syndrome?
a. [ ] high stature
b. [ ] short fingers
c. [ ] non-development of eyes
d. [X] microcephaly
e. [X] big low-set ears
104) Which of the following are viable genome mutation in human?
a. [ ] triploidy
b. [ ] monosomy 21
c. [X] monosomy X
d. [X] trisomy X
e. [X] trisomy 21
105) Somatic mutations:
a. [X] may change cell activity
b. [X] may induce a tumor
c. [X] may induce apoptosis
d. [X] are not inherited
e. [ ] are inherited
106) Variability:
a. [X] assure selection
b. [X] may have an adaptive role
c. [X] may be determined by independent segregation of chromosomes in meiosis
d. [X] represent the propriety to obtain new traits
e. [ ] is determined by exact replication of DNA
107) Mechanisms of gene mutations are:
a. [X] error during replication
b. [X] inversion of a sequence of nucleotide
c. [ ] deletion of a chromosomal arm
d. [X] substitution of nucleotides
e. [X] deletion or addition of nucleotides
108) Characteristics of gene mutations:
a. [X] assure formation of multiple alleles
b. [ ] may produce chromosomal mutations
c. [X] appear under action of mutagens
d. [ ] may be numeric
e. [X] may produce metabolic diseases
109) Characteristics of point mutations:
a. [X] may produce a shorter polypeptide
b. [X] may produce a synonym codon
c. [ ] may be seen under microscope
d. [X] may produce a STOP codon
e. [ ] change only phenotype
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110) Substitution of one nucleotide induces:

a. [ ] changes at level of one amino acid only
b. [ ] a frame-shift mutation
c. [X] a missense mutation
d. [X] formation of a synonym codon
e. [X] formation of a nonsense codon
111) Characteristics of phenotypic variability:
a. [ ] changes may occur in promoter
b. [ ] new traits are inherited
c. [X] phenocopy is an example
d. [X] ontogenetic changes
e. [X] changes in limits of norm of reaction
112) Which of the following are examples of modifications?
a. [ ] albinism
b. [ ] polydactylism
c. [X] development of music talent
d. [X] skin color changes under UV light
e. [X] the concentration of hemoglobin increases at low concentrations of oxygen in atmosphere
113) Hereditary variations:
a. [X] represent the main sours of variations for selection
b. [ ] change only phenotype
c. [X] represent the result of mutations and recombination
d. [X] are inherited through generations
e. [X] are determined by changes in genetic apparatus
114) Norm of reaction:
a. [ ] determines the range of recombination
b. [ ] determines the range of mutations
c. [X] determines the range of modifications
d. [X] is genetically determined
e. [ ] represents changes of genetic apparatus under environment
115) Individuality of each person is determined by:
a. [X] recombination during gametogenesis in both parents
b. [X] mutations that appear during the life
c. [ ] exact replication of DNA during gametogenesis
d. [X] conditions of realization of genetic information
e. [X] new gene combination in zygote
116) Variability:
a. [ ] always is determined by changes in genetic material
b. [ ] explains family traits
c. [X] assures adaptation in new conditions
d. [X] is represented by different traits expressed in different members of a population
e. [X] represents the universal propriety of organisms to obtain new traits
117) Genomic mutations may be:
a. [ ] point
b. [ ] equilibrated
c. [X] generative
d. [X] autosomal
e. [X] somatic
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118) What of the following can be identified using analyses of family trees?
a. [X] type of inheritance
b. [ ] chromosomal abnormalities
c. [ ] polygenic diseases
d. [X] congenital abnormalities
e. [ ] the type of chromosome involved in disease
119) Variations in phenotypic manifestation of the autosomal dominant genes are determined by:
a. [X] non-complete penetrance
b. [ ] chromosomal mutations
c. [X] variable expressivity
d. [ ] mitochondrial mutations
e. [ ] dynamic mutations
120) Select the traits determined by the human genes with non-complete penetrance:
a. [ ] Rh factor
b. [ ] hemophilia
c. [X] sindactilia
d. [ ] albinism
e. [X] polydactilia
121) Penetrance:
a. [ ] represents the frequency of manifestation in phenotype of an autosomal recessive gene
b. [X] represents the frequency of manifestation of in phenotype a X-linked gene
c. [X] represents the frequency of manifestation of in phenotype an autosomal dominant gene
d. [X] may be complete and non-complete
e. [ ] is characterized by variable phenotypic manifestation of the gene
122) Select correct affirmations concerning consanguinity:
a. [X] represents the marriage between two relatives
b. [X] increases the risk for recessive diseases
c. [ ] increases the risk for dominant diseases
d. [ ] risk for disease increases in case of X-linked dominant inheritance
e. [X] risk for disease increases in case of autosomal recessive inheritance
123) Monogeneic inheritance:
a. [X] corresponds to Mendel pattern of inheritance
b. [X] can be dominant or recessive
c. [ ] an example is skin color
d. [X] may be multifactorial
e. [X] characterizes some diseases
124) Select genetic diseases with gonosomal recessive inheritance:
a. [X] Duchenne muscular dystrophy
b. [X] hemophilia
c. [ ] albinism
d. [ ] phenylketonuria
e. [X] Becker muscular dystrophy
125) Select genetic diseases with autosomal recessive inheritance:
a. [ ] Duchenne muscular dystrophy
b. [X] phenylketonuria
c. [X] albinism
d. [ ] Becker muscular dystrophy
e. [ ] hemophilia
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126) Select genetic diseases with autosomal dominant inheritance:

a. [X] achondroplasia
b. [ ] hemophilia
c. [X] arahnodactilia
d. [ ] albinism
e. [ ] color blindness
127) Select wrong affirmations concerning dominant inheritance:
a. [X] low frequency in the family
b. [ ] high frequency of consanguine marriages
c. [X] heterozygous persons are healthy
d. [ ] heterozygous persons are affected
e. [X] two healthy parents may have affected children
128) Which of the following are criteria of recognition for dominant diseases?
a. [ ] low frequency in the family
b. [X] healthy parents have always healthy children
c. [X] affected parents may have healthy children
d. [ ] affected parents have always affected children
e. [X] the continuity of inheritance in the generation's succession
129) Which of the following are criteria of recognition for autosomal dominant diseases?
a. [ ] affected father may have just affected daughters
b. [ ] low frequency of disease in the family
c. [X] affected father may have affected and healthy daughters
d. [ ] two healthy parents may have affected children
e. [X] two affected parents may have healthy children of both genders
130) Which of the following are criteria of recognition for autosomal recessive diseases?
a. [ ] affected mother has all the sons affected
b. [X] two healthy parents may have affected children of both genders
c. [ ] healthy parents have only healthy sons
d. [ ] the continuity of the disease's inheritance in the generation's succession
e. [X] an healthy father may have affected daughters and sons
131) Which of the following are criteria of recognition for recessive diseases?
a. [ ] affected parents may have healthy children
b. [X] healthy mother may have affected and healthy sons
c. [ ] high frequency in the family
d. [X] affected parents have all affected children
e. [X] healthy parents may have affected children
132) In dominant inheritance an affected mother:
a. [X] may have affected sons
b. [X] may have healthy sons
c. [X] may have affected daughters
d. [X] may have healthy daughters
e. [ ] all the children should be affected
133) Which of the following are criteria of recognition for X-recessive diseases?
a. [X] all the sons of affected mother should be affected
b. [ ] all the daughters of affected mother should be affected
c. [ ] an affected mother cannot transmit the disease to her daughters
d. [X] healthy father has only healthy daughters
e. [ ] two healthy parents may have just affected sons
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134) The recognition of the hereditary disease is possible when the disease:
a. [X] has a higher frequency in particular family than in the population
b. [X] has a higher frequency in consanguineous marriages
c. [ ] is present in all or almost members of the studied family
d. [ ] is produced by somatic mutations
e. [ ] follow the mendelian inheritance
135) Family tree analysis is used for:
a. [X] identification if the trait is hereditary or environmental
b. [ ] identification of distribution of genotypes in population
c. [ ] identification of chromosomal aberrations
d. [X] identification type of inheritance
e. [X] prenatal diagnosis
136) Dominant traits are determinate by:
a. [X] phenotypic expression of one allele in heterozygous
b. [ ] for phenotypic expression identical alleles are required
c. [X] homozygous and heterozygous persons have the same traits
d. [ ] environment factors only
e. [ ] pairs of dominate non-allele genes
137) Which from the following traits are polygenic?
a. [X] the stature
b. [X] iris pigmentation
c. [ ] haptoglobins
d. [ ] MN blood system
e. [X] physical abilities
138) Which of the following are criteria of recognition for polygenic traits?
a. [ ] correspond to the mendelian pattern of inheritance
b. [X] display a wide phenotypic variation
c. [X] the diseases are more frequent in consanguineous marriages
d. [ ] have a familial aggregation
e. [ ] are produced in males only
139) In which type of diseases environmental factors have a high importance?
a. [ ] autosomal dominant
b. [ ] autosomal recessive
c. [ ] gonosomal
d. [X] polygenic
e. [X] multifactorial
140) Which of the following are the characteristics of dominant genes?
a. [X] powerful genes
b. [ ] weak genes
c. [X] express in homozygotes and heterozygotes
d. [ ] express in homozygotes only
e. [ ] may be only normal
141) Which of the following are the characteristics of recessive genes?
a. [ ] powerful genes
b. [X] weak genes
c. [ ] express in homozygotes and heterozygotes
d. [X] express in homozygotes only
e. [ ] may be only abnormal
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142) Choose the types of allele interactions:

a. [X] dominancy
b. [ ] epistasis
c. [X] codominancy
d. [ ] additive polygeny
e. [X] multiple alleles
143) Choose the types of non-allele interactions:
a. [ ] CodominancY
b. [X] epistasis
c. [X] gene complementarity
d. [X] additive polygeny
e. [ ] multiple alleles
144) Which of the following lead to partial trisomy?
a. [X] duplication
b. [X] isochromosome
c. [ ] deletion
d. [ ] inversion
145) Which of the following is the partial monosomy?
a. [ ] duplication
b. [X] isochromosome
c. [X] deletion
d. [ ] inversion
146) Genetic disorders may be:
a. [ ] ecological
b. [X] monogenic
c. [X] polygenic
d. [X] multifactorial
e. [X] chromosomal
147) Chromosome diseases may be:
a. [X] numerical
b. [ ] multifactorial
c. [ ] monofactorial
d. [X] structural
e. [X] gonosomal
148) Gene diseases may be:
a. [ ] numerical
b. [X] multifactorial
c. [X] monofactorial
d. [ ] structural
e. [ ] gonosomal
149) Choose from the following the indications for karyotyping:
a. [ ] mental retardation
b. [ ] hemolytic disease of new born
c. [X] ambiguous genitalia
d. [X] sterility
e. [X] multiple malformation of newborn
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Human Genetics - CM
Bessisy Tamir 1143
150) Multifactorial diseases:

a. [X] are produced just by multiple abnormal genes
b. [ ] usually are common disorders
c. [ ] may be present as isolated malformation
d. [X] produced by genes and environmental agents
e. [ ] don't depend on environmental factors
151) Mitochondrial diseases:
a. [ ] are produced by mutations in nuclear DNA
b. [X] are produced by mutations in mtDNA
c. [ ] have paternal inheritance
d. [X] have maternal inheritance
e. [ ] are present only in woman
152) Primary prophylaxis refers to the:
a. [ ] early identification of genetic disorder
b. [ ] later identification of genetic disorder
c. [X] prenatal identification of genetic disorder
d. [X] avoiding of the production of genetic disorders
e. [ ] treatment of genetic disorder
153) Primary prophylaxis could be achieved by the following actions:
a. [X] prevention of mutation
b. [ ] reduction of reproductive age under 30 years in women
c. [X] reduction of reproductive age under 50 years in men
d. [X] heterozygote identification
e. [ ] homozygote identification
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1) CS Genotype includes: e) during G0 phase
a) only nuclear DNA
b) only mitochondrial DNA 9) CS Which of the following stages is the most
c) nuclear genes important from genetical point of view?
d) all mitochondrial genes a) G1 and G2
e) nuclear and mitochondrial genes b) G1
2) CS Which of the following is not a part of genetic c) S
apparatus? d) G0
a) nucleus e) G2
b) centrioles 10) CSCell DNA is located in:
c) mitochondria a) nucleus
d) lysosomes b) euchromatin
e) ribosomes c) mitochondria
3) CS Which of the following describes human d) chromosomes only
genome? e) both nucleus and mitochondria
a) the total complement of nuclear genes 11) CM Human genetics studies:
b) the total complement of genes contained in a cell a) phenomena of inheritance and variability in human
c) fragments of DNA which encode proteins populations
d) a complete set of the genes of a human population b) laws of transmission of normal and pathological
e) the genetic constitution of an organism traits
4) CS Which of the following provides the equal c) structure of cell organelles
separation of genetic material? d) common human diseases
a) ribosomes e) role of genetic predisposition and environmental
b) chromosomes factors in appearance of diseases
12) CM Non repetitive sequence:
c) centrioles
a) are dispersed and repeated a small number of times
d) mitochondria
b) are very short
e) endoplasmic reticulum
c) are unique and represented in a single copy
5) CS Which of the following refers to total
d) can make up gene families
complement of nuclear genes?
e) consist of exons and intron
a) phenotype
b) gene pool 13) CM Moderately repetitive sequences:
c) linkage group a) are short and usually repeated as a tandem array
d) caryotype b) make up the families of genes
e) genotype c) participate in regulation of gene expression
6) CS The following are synthesized in G2-phase: d) form transposons
a) RNA and proteins of mitotic spindle e) have structural function
b) DNA and proteins 14) CM Highly repetitive sequences:
c) RNA, DNA and proteins a) are short and usually repeated as a tandem array
d) DNA, RNA and histones b) are represented by structural genes
e) none of the above c) make up gene families
7) CS In which of the interphase stages does human d) may be used as a molecular markers
cell contain 92 molecules of DNA? e) have structural role
a) in S-phase only 15) CM Which of the following describe
b) in G1-phase transposons?
c) in both G1 phase - and S -phase a) are segments of DNA that can't move in genome
d) in G2-phase b) they are sometimes called "jumping genes"
e) during whole interphase c) they may be of two types: DNA transposons and
8) CS DNA replication takes place: retrotransposons
a) in interphase (during all phases) d) they may cause mutations
b) at the beginning of S-phase e) they may change the amount of DNA in the genome
c) during S phase 16) CM Which of the following are shared by
d) during mitosis mitochondrial genome?
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a) it is a double-stranded circular molecule of DNA
b) it is a double stranded linear molecule of DNA *24) CM Human genetics studies:
c) its replication takes place from two discrete origins a) the structure of genes, chromosomes, karyotype
d) it is very compact b) heredity and variability
e) it has introns c) steps of gene expression
17) CS Nuclear genome is represented by: d) human diseases prophylaxis
a) 4000 genes e) molecular mechanisms of evolution
b) 46 molecules of DNA 25) CM Which of the following are components of
c) mobile elements genetic apparatus?
d) viral DNA a) nucleus
e) pseudogenes b) ribosomes
18) CS Which of the following refers to total c) cell center
complement of genes in population? d) mitochondria
a) phenotype e) lysosomes
b) gene pool 26) CM Heredity:
c) linkage group a) is assured by property of DNA to replicate
d) karyotype b) is determined by stability of genetic program
e) genotype c) is universal property to keep traits
19) CS Normal human gamete contains: d) assures adaptation in new life condition
a) 2n=23 e) explains "family" traits
b) n=23 27) CM Heredity represents:
c) n=46 a) the property of organisms to transmit traits to
d) 22 autosomes offspring
e) 44 autosomes b) the property of organisms to keep traits along
generations
20) CS What do contain normal human eggs?
a) 44 + X c) the property assured by DNA replication
d) the property assured by random segregation of
b) 44 + Y
c) 22 + XY chromosomes in meiosis
d) 22 + Y e) the property assured by crossing-over
28) CS Chemical composition of chromosomes:
e) 22 + X a) DNA and RNA
21) CS Cell center is a part of genetic apparatus b) DNA, RNA, histones and non-histones
because: c) DNA and histones
a) consists of two centrioles d) DNA, RNA and non-histones
b) is surrounded by centrosphere e) RNA and histones
c) is represented by a single body
29) CS Normal human somatic cells contain:
d) assures exact segregation of genetic information a) a haploid number of chromosome (2n=23)
during cell division b) a diploid number of chromosomes (2n=46)
e) contains membranes c) 46 pairs of autosomes
22) CS Which of the following don't characterize
d) 44 autosomes and 2 pairs of sex chromosomes
euchromatin?
e) 22 autosomes and sex chromosome
a) early replication
b) it's diffuse chromatin 30) CS Which of the following is not shared by
c) is transcribed homologous chromosomes?
d) contains active genes a) they are similar in morphology
e) contains highly repetitive sequence b) they form pairs during meiosis
––23) CS Which of the following don't c) they have maternal and paternal origin
characterize d) they are present in diploid cells
heterochromatin? e) they are present in haploid cells
a) late replication 31) CS Which of the following is true concerning
b) it's condense autosomes?
c) contains non-active genes a) there are 23 pairs in each human cell
d) is transcribed b) all of them are identical
e) contains highly repetitive sequence 2
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c) they are present only in somatic cells chromosome?
d) they pair during meiosis and form 22 bivalents a) group A (1-2-3)
e) they are different in men and women b) group B (4-5)
c) group C (X-6-7-8-9-10-11-12)
32) CS The chromosomes represent:
d) group E (16- 17-18)
a) the most condensed, genetically active chromatin
e) none of the above
b) genetic information during interphase
c) genetic material during cell division 40) CS Which of the listed groups includes Y-
d) the total complement of DNA molecules from a cell chromosome?
e) structures which consists of RNAs and proteins a) group A
b) group C
33) CS What do contain normal sperm cells?
c) group G (21-22-Y)
a) 44+X
d) group D (13-14-15)
b) 44+Y
c) 22+XY
41) CS Exact identification of chromosomes may be
d) 22+X
done using the following criterion:
e) 22+XX
a) length of chromosome
34) CS Which of the following is not a b) position of the centromere
morphological criterion of metaphase chromosomes? c) presence of secondary constriction
a) number of chromosomes d) different patterns of banding
b) presence of centromere e) presence of satellites
c) presence of telomeres 42) CS Which of the following is false for metaphase
d) chromosomal length chromosome?
e) position of the centromere a) they are attached to the spindle fibers
35) CS What the term "karyotype" does mean? b) they move to the apposite poles
a) nuclear genetic material c) they are located in cytoplasm
b) genetic information from a haploid cell d) they consist of 2 chromatids
c) type of chromosomes e) they are strongly condensed
d) display of the metaphase chromosome of a somatic 43) CS Which of the following is the main genetic
cell difference between interphase chromatin and
e) entire genetic information of cell metaphase chromosomes?
36) CS Which of the following is used to block a) chemical composition
mitosis at metaphase? b) level of condensation
a) phytohaemagglutinin c) genetic activity
b) colchicine d) intensity of staining
c) histones e) quantity of genetic information
d) CARR 44) CM Which of the following chromosomes have
e) quinacrin. satellites or arm p?
37) CS Which of the following is not a step of a) 1, 9, 16, 19
chromosome analysis? b) 14, 15, 16, 17, 18
a) collecting of blood in aseptic condition c) 13, 14, 15
b) treatment of cell by restriction enzymes d) 21, 22
c) blocking of mitosis in metaphase e) 21, 22, Y
d) adding of fixative 45) CM Which of the following chromosomes have
e) examination, using a microscope no secondary constrictions on p arm?
38) CS Which of the following is not necessary for a) 1, 9, 16, 19
chromosome analysis? b) 1, 9, 16, Y
a) fixative solution c) 1, 9, 6, 19
b) orcein d) 21, 22
c) quinacrin e) 1, 19, 21
d) CARR 46) CM Metacentric chromosomes:
e) endonuclease a) have p/q ratio =1/1
39) CS Which of the following groups includes X b) all of them contain satellites in long arm
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GU EN
c) have centromere index equal with 46-49 c) positive bands - heterochromatin
d) are chromosomes 1,3,17,Y d) positive bands - euchromatin
e) are he chromosomes 1,3,19,20,16 e) negative bands - heterochromatin
47) CM Submetacentric chromosomes: 55) CM What are the practical role of C - banding?
a) have p/q ratio = 1/5 a) exact identification of chromosomes
b) have p/q ratio =1/3 b) identification of structural abnormalities
c) are chromosomes of group C c) exact identification of number of chromosomes
d) are chromosomes of group F d) exact identification of centromere region
e) are chromosomes of group B e) exact identification of telomeres
48) CM Acrocentric chromosomes: *56) CM What are the practical role of T - banding?
a) have p/q ratio = 1/5 a) determination of sex chromatin
b) have p/q ratio =1/3 b) exact identification of chromosomes
c) the chromosomes of group G c) exact identification of centromere region
d) the chromosomes of group F d) exact identification of telomeres
e) the chromosomes of group B e) exact identification of nucleolus
49) CM The chromosome 16: 57) CM Which of the following are not used for Q-
a) it is a medium chromosome banding?
b) may contain a secondary constriction a) CARR
c) it is a metacentric chromosome b) Giemsa dye
d) it is from F group c) quinacrin
e) it is an acrocentric chromosome d) fluorescent dye
50) CS Telomeres are necessary for: e) orcein
a) cell division 58) CM Choose the common elements of metaphase
b) DNA replication chromosome:
c) nucleolus formation a) two chromatids;
d) maintaining of entire chromosome structure b) satellites
e) transcription c) centromere
51) CM Chromosome pairs differ by: d) telomere
a) size e) secondary constriction in q-arm
b) shape 59) CM Which of the following describe female
c) number of genes caryotype?
d) presence of DNA molecules a) all chromosomes are shorter than in men
e) presence of secondary constriction b) it contains 22 pairs of autosomes and 2 sex
52) CMWhich of the following are shared by G- chromosomes
banding? c) it includes 7 groups of chromosomes
a) Giemsa dye is used for staining d) it contains chromosomes of different length
b) Giemsa or fluorescent dyes are used for staining e) sex chromosomes are different
60) CM Which of the following describe male
c) positive bands - euchromatin
gamete karyotype?
d) negative bands - heterochromatin
a) it contains X and Y chromosomes
e) positive bands - heterochromatin
b) it contains either X or Y chromosomes
53) CM Which of the following are right for Q-
c) it contains 22 pairs of autosomes
banding?
d) it contains 22 autosomes
a) Giemsa or fluorescent dyes are used for staining
e) it contains haploid number of chromosomes
b) quinacrin is used for staining
61) CM Karyotype of somatic male cells contains:
c) positive bands - heterochromatin
a) identical sex chromosomes
d) negative bauds - euchromatin
b) X and Y chromosomes
e) CARR is used for staining
c) 22 pairs of autosomes
54) CM Which of the following are shared by R-
d) haploid number of chromosomes
banding?
e) 22 autosomes
a) Giemsa or fluorescent dyes are used for staining
b) CARR is used for staining 62) CM Karyotype of somatic female cells contains:
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a) identical sex chromosomes e) 46,XX,9qh
b) X and Y chromosomes 70) CS The chromosomes represent:
c) 22 pairs of autosomes a) non-active euchromatin
d) haploid number of chromosomes b) genetic material during interphase
e) 22 autosomes c) genetic material during cell division
63) CM Which of the following groups include d) bodies which appear during mitochondrial division
metacentric chromosomes? e) bodies which consist of RNA and proteins
a) A
71) CS Which of the following is false concerning 21 st
b) B
chromosome?
c) G
a) is an acrocentric chromosome
d) F
b) is a small chromosome
e) C
c) is included in G group
64) CM Which of the following groups include d) contains satellites on short arms
acrocentric chromosomes? e) there are tree chromosomes in Turner syndrome
a) B
b) C 72) CS Which of the following karyotypes don't
c) D correspond to normal phenotype?
d) A a) 46,X,Yq+
e) G b) 46,XY,9qh+
65) CM Sex chromosomes: c) satellites in chromosomes from D group
a) are the same in men d) 46,XY,inv(4)(p15q13)
b) are the same in women e) 46,XY,5p-
c) determine gender of child 73) CS What method uses obligatory fluorescent
d) are presents in sexual cells only microscope?
e) contain only genes, that determine sex a) T banding
b) C banding
66) CM Chose the karyotypes of persons with
c) Q banding
normal phenotype:
d) G banding
a) 46,XY
e) R banding
b) 46,XY,9qh+
74) CM X chromosome:
c) 45,XY,-9
a) contains only genes for female development
d) 44,XY,5p-
b) always has maternal origin
e) 46,XY,inv (4)(p15q13)
c) X-linked diseases often affect males
67) CM Chose the karyotypes of persons with normal
d) X polysomies in men are always lethal
phenotype:
e) X trisomy in women are viable
a) 46,XY
b) 46,XX,1q+ 75) CM All the chromosomes contain:
c) 46,XX,9q- a) two chromatids
d) 46,XX 16qh+ b) satellites
e) 45,XY,rob (14;21) c) centromere
68) CM Which of the following karyotypes don't d) secondary constriction on long arm
correspond to normal phenotype? e) telomeres
a) 47,XX,+21 76) CM Which of the following characterize male
b) 46, iso(Xp)Y karyotype?
c) 46,XY,1q-,9qh+ a) sex chromosomes have the same length
d) 46,XY,16qh- b) there are 5 acrocentric chromosomes
e) 46,X, r(X) c) contains 46 chromosomes
69) CM Which of the following karyotypes don't d) contains chromosomes with different length
correspond to normal phenotype? e) contains metacentric, acrocentric and submetacentric
a) 47,XX,+13 chromosomes
b) 45,XY, rob (14;21) 77) CM Which of the following characterize female
c) 46, XX, rob (13;21),+21 karyotype?
d) 46,XY,16qh+ a) sex chromosomes have the same length
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b) here are 5 acrocentric chromosomes d) determine the number of X chromosomes
c) the chromosomes are distributed in 7 groups e) detect abnormal karyotype
d) consists of 22 pairs of autosomes and two sexual
chromosomes 85) CS Which of the following corresponds to the
e) all the chromosomes are shorter than in males karyotype 47,XX iso(Xp)?
a) two fluorescent bodies
78) CM The karyotype: b) one 0,5 µm Barr body
a) changes in karyotype always lead to abnormal c) two Barr bodies: 1 µm and 0,5 µm respectively
phenotype d) one 0,5 µm F body
b) males and females have the same number of e) always - two normal Barr bodies
chromosomes 86) CS Which of the following is observed in cells of
c) is characterized by a constant number of person with karyotype 47,XYY?
chromosomes a) two fluorescent bodies
d) is represented by chromosomes from a gamete b) two normal Barr bodies
e) is represented by chromosomes from a diploid cell c) one 0,5 µm Barr body
79) CM Which of the following errors are always
lethal? d) two Barr bodies: 1 µm and 0,5 µm respectively
a) triploidy e) one 0,5 µm F body
b) trisomy 87) CS Chose the number of Barr bodies, which
c) nullisomy corresponds to the following karyotype 47,XXY?
d) deletions a) 1
e) autosomal monosomy b) 2
80) CS Which of the following is false for X- c) 3
chromosome? d) 0
a) it is present in females only e) 4
b) it is present in males and females 88) CS Chose the number of Barr bodies, which
c) it contains many genes corresponds to the following karyotype 47,XXX?
d) it may be inactivated a) 1
e) half of the sperms contain an X chromosome b) 2
81) CS What is common for X and Y chromosomes? c) 3
a) they have the same length d) 0
b) they both are sex chromosomes e) 4
c) they have the same number of genes 89) CS Chose the number of Barr bodies, which
d) they are inactive corresponds to the following karyotype 47,XX,+21?
e) they both produce Barr bodies a) 1
b) 2
82) CS What is number of Barr bodies in normal
c) 3
karyotype of women?
d) 0
a) 2
e) 21
b) 1
90) CS Chose the number of Barr bodies, which
c) 3
corresponds to the following karyotype 47,XY,+13?
d) 0
a) 1
b) 2
83) CS The number of Barr bodies:
c) 3
a) is equal with the number of X chromosomes
d) 0
b) is equal with the number of Y chromosomes
e) 13
c) is one less than the number of X chromosomes
91) CS Chose the number of Barr bodies, which
d) is one more than the number of chromosomes
corresponds to the following karyotype 45,X?
a) 1
84) CS Examination of Barr bodies is not useful to: b) 2
a) determine the number of autosomes c) 3
b) determine the sex in prenatal stage d) 0
c) determine the sex of a person with ambiguous e) 4
genitalia
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92) CS Which of the following corresponds to the 99) CS. Which of the following sequence of numbers
karyotype 47,XYY? represents the right number of Barr bodies observed in:
a) a man with Klinefelter syndrome a man with trisomy 21; a woman with trisomy X; a
b) one 0,5 µm Barr body woman with Turner syndrome; a man with Klinefelter
c) one 0,5 µm F body syndrome?
d) two normal F bodies a) 0, 1, 2, 1
e) two Barr bodies b) 1, 1, 0, 1
93) CS Which of the following corresponds to the c) 0, 2, 0, 1
karyotype 47,XY iso(Xp)? d) 2, 0, 1, 1
a) absence of F body e) 1, 1, 0, 2
b) 0,25 µm F body 100) CS What F body represents?
c) 0,5 µm F body a) a X chromosome
d) two 0,25 µm F bodies b) a Y chromosome
e) two F bodies: 0,25 µm and 0,50 µm respectively c) 2/3 of Y chromosome
94) CS For which of karyotypes is true the following d) 2/3 of short arm of Y chromosome
list of Barr bodies: 0,1,0,1? e) 2/3 of long arm of Y chromosome
a) 45,X; 46,XX; 47,XYY; 48,XXYY 101) CM. For which of karyotypes is true the
b) 46,XX; 46,XY; 45,X; 47,XXX following list of F bodies: 0, 1, 2, 0?
c) 47,XYY; 46,XX; 46,XY; 48,XXXX a) 45,X; 46,XY; 47,XYY; 48, XXXX
d) 46,XY; 45,X; 47,XXY; 47,XYY b) 46,XX; 47,XXX; 47,XXY; 45,X
e) 47,XXX; 46,XY; 48,XXYY; 47,XYY c) 47,XXX; 47,XXY; 48,XXYY; 46,XX
95) CS. Which of the following contains more than d) 46,XY; 47,XXY; 47,XYY; 47,XXX
one Barr body in the cells? e) 45,X; 46,XX; 48,XXXY; 46,XY
a) a woman with normal phenotype 102) CM Which of the following describe Barr body?
b) a man with Klinefelter syndrome a) normally one X chromosome is inactivated in
c) a woman 46,X,i(Xq) interphase
d) a woman with Turner syndrome b) their number is equal with the number of X
e) a woman with trisomy X chromosomes
96) CS. Which of the following is false concerning X- c) it is a facultative heterochromatin
chromatin? d) it corresponds to the number of Y chromosomes
a) represents a heterochromatin body in multilobed e) it is about 1 µm in diameter
nuclei of neutrophils 103) CM Which of the following corresponds to the
b) in mucosa cells is attached to the inner nuclear karyotype 47,XX, iso(Xp)?
membrane a) woman with trisomy
c) it is colored with quinacrine b) woman with monosomy
d) it is darkly colored c) two Barr bodies: 1 µm and 0,5 µm respectively
e) represents an inactivated X chromosome d) two fluorescent bodies
97) CS. The F body: e) two normal Barr bodies
a) represents a X-chromatin body 104) CM Examination of Barr bodies is useful to:
b) represents an entirely inactivated Y chromosome a) determine the gender in prenatal stage
c) it is present in two copies in persons with Klinefelter b) determine the gender of a person with ambiguous
syndrome genitalia
d) it is present in all persons without Barr body c) defect gonosomal polisomies
e) the number of F bodies and Y-chromosomes is the d) determine the number of Y chromosomes
same e) determine the number of X chromosomes
98) CS. Which of the following persons may contain 105) CM. A person with a normal phenotype and one
47 chromosomes and a single Barr body? Barr body has the following karyotype:
a) a man with trisomy 21 a) 46,XX
b) a woman with trisomy 13 b) 47,XXY
c) a woman containing an additional X chromosome c) 45,XX, rob(14,21)
d) a person with karyotype 47,XYY d) 46,XX, del 8q
e) a woman with Turner syndrome e) 45,X
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106) CM. Which of the following are true concerning
Y chromatin? 113) CS Which of the following is not a
a) it is absent in females characteristic of mitosis?
b) it is present in person with Klinefelter syndrome a) it is a equational division
c) it is present in all males b) transmission of genetic information takes place
d) the persons with karyotype 47,XYY contain a single exactly
F body c) daughter cells receive the same number of
e) the number of Y-chromosomes is identical with chromosomes
number of Barr body d) it consists of prophase, metaphase, anaphase,
107) CM. Which of the following announcements telophase
concerning X chromatin are true? e) it begins with monochromatidian chromosomes
a) represents a heterochromatin body in sperm cells 114) CS Which of the following is not a phase of
b) in mucosa cells is attached to the inner nuclear mitosis?
membrane a) diakinesis
c) it is intensely colored with quinacrine b) anaphase
d) it is present only in persons containing more then c) prophase
one X chromosome d) metaphase
e) in all cells is inactivated the same X chromosome e) telophase
108) CM. Analysis of X-chromatin assures: 115) CS Which of the following combinations
a) identification of persons with Down syndrome correctly describes the sequence of mitosis phases?
b) identification of gender a) prophase-telophase-metaphase-anaphase
c) identification of karyotype b) anaphase-prophase-telophase-metaphase
d) identification of the genetic gender in children with c) metaphase-prophase-anaphase-telophase
ambiguous genitalia d) prophase-metaphase-anaphase-telophase
e) identification of persons with Klinefelter syndrome e) prophase-anaphase-metaphase-telophase
109) CM. Which of the following are true concerning 116) CS Which of the following is not an importance
F chromatin? of mitosis?
a) it is intensely stained with fluorescent dyes a) it ensures stability of the tissues
b) may be identified during cell division b) it provides embriogenesis
c) it is present in all male peoples c) it ensures the substitution of dead cells
d) it is present in egg cells d) it provides growth and development
e) may be identified in all sperm cells e) it links parents with their offspring
110) CM Which of the following correspond to 117) CS Which of the following formula corresponds
trisomy X? to the anaphase of mitosis?
a) one Barr body a) 2n=1c
b) three Barr bodies b) 2n=4c
c) two 1 m Barr bodies c) 4n=4c
d) 0,5 m Barr body d) 2n=2c
e) absence of F body e) 4n=2c
111) CM Which of the following persons may contain 118) CS Which of the following formula corresponds
47 chromosomes and a single F body? to the prophase of mitosis?
a) a man with XYY syndrome a) 2n=2c
b) a normal man b) 4n=4c
c) a man with Down syndrome c) 2n=4c
d) a woman with trisomy X d) 4n=2c
e) a man with Klinefelter syndrome e) 2n=1c
112) CM Which of the following correspond to the 119) CS Which of the following is not a characteristic
karyotype 46,Xi(Xp)? of meiosis?
a) one Barr body a) it contains a reductional division
b) two Barr bodies b) it provides growth and development
c) a normal woman c) it links parents with their offspring
d) a woman with Turner syndrome d) it ensures the constant number of chromosomes in
e) a woman with partial trisomy generations of organisms
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e) it increases genetic variability 127) CS What zygotes will result after fertilization of
an normal gamete with a gamete produced after non-
120) CS In which of the following stages of meiosis disjunction during meiosis II in father?
does take place crossing-over? a) 45,X; 46,XXX; 47,XYY
a) anaphase I b) 45,X; 47,XXX; 47,XXY
b) prophase I c) 45,X; 47,XXX; 47,XYY
c) anaphase II d) 45,X; 47,XXX; 46,XYY
d) metaphase I e) 45,X; 47,XXY; 47,XYY
e) metaphase II 128) CM What zygotes will result after fertilization if
121) CS Bivalent is: in both gametes a non-disjunction will occur during
a) a pair of homologous chromosomes meiosis II?
b) a result of crossing over a) 47,XYY
c) a set of four chromosomes b) 47,XXX
d) a characteristic of mitosis c) 48,XXXX
e) formed during prophase II d) 48,XXYY
122) CS When does occur inter-chromosomal e) 48,XXXY
recombination? 129) CM What zygotes will result after fertilization of
a) in anaphase II an normal gamete with a gamete produced after non-
b) in metaphase II disjunction during meiosis I and meiosis II in mother?
c) in prophase II a) 48,XXYY
d) in prophase I b) 48,XXXY
e) in anaphase I c) 49,XXXXY
123) CS When does occur intra-chromosomal d) 49,XXXXX
recombination? e) 47,XXY
a) in anaphase II 130) CS Which of the following errors leads to mosaic
b) in anaphase I 46,Xi(Xp)/46,XX/46,Xi(Xq)?
c) in prophase I a) transversal cleavage during second zygotic division
d) in prophase II b) anaphase lag during mitosis
e) in metaphase I c) transversal cleavage during first zygotic division
124) CS Which of the following errors leads to the d) non-disjunction of X chromosomes during mitosis
mosaic 46,Xi(Xp) / 46,Xi(Xq)? e) non-disjunction of X chromosomes during meiosis
a) non-disjunction of chromatids in X chromosome 131) CS Which of the following is not a characteristic
b) anaphase lag in mitosis of meiosis?
c) transversal cleavage of centromere during first a) meiosis assures variability
zygotic division b) first prophase is the longest stage
d) anaphase lag in meiosis c) both divisions consist of four stages: prophase,
e) transversal cleavage of centromere during metaphase, anaphase and telophase
blastomere's division d) distribution errors may occur in both divisions
125) CS Crossing-over takes place during:
a) anaphase I e) consists of two divisions: the first equational and the
b) prophase II second - reductional
c) anaphase II 132) CS The mosaic 47/46/45 can be produced via:
d) prophase I a) anaphase lag during mitosis
e) telophase I b) nondisjunction during mitosis and meiosis II
c) nondisjunction during mitosis
126) CS What zygotes will result after fertilization of
d) nondisjunction during meiosis II
an normal gamete with a gamete produced after non-
e) nondisjunction during meiosis I
disjunction during meiosis I in father?
a) 45,X; 47,XXY 133) CS New gene combinations are produced during:
b) 45,X; 46,YY; 47, XYY a) telophase I and anaphase II
c) 45,X; 47,XXY; 47, XYY b) anaphase II
d) 45,X; 46,XY; 47,XXX c) metaphase II
e) 46,XY; 47,XXX; 47, XYY d) prophase I and prophase II
e) prophase I and anaphase I
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e) A2B
134) CS which of the following is not a characteristic
of mitosis? 141) CS A woman has Hp1-1 and his brother is Hp2-2.
a) resulted cells are diploid What genotypes may have parents?
b) result two cells a) Hp 1-1 / Hp 1-1
c) at first stage of mitosis the cell contains b) Hp 1-2 / Hp 1-2
monochromatidian chromosomes c) Hp 1-2 / Hp 2-2
d) may occur in testis d) Hp 1-1 / Hp 1-2
e) is an equational division e) Hp 2-2 / Hp 2-2
135) CM Choose the possible mechanisms of tetrasomy 142) CS In which of the following combinations
48,XXYY: couples cannot have children with A2 blood group?
a) non-disjunction of X chromosome during meiosis I a) A1 + B
and II b) A1B + B
b) gonosomal non-disjunction in ovogenesis and c) A2B + O
spermatogenesis in meiosis I d) A2 + A2B
c) double gonosomal non-disjunction in ovogenesis e) A2B + A1
d) gonosomal non-disjunction in spermatogenesis 143) CS In which of the following combinations
during meiosis I and non-disjunction of Y chromosome couples may have children with O blood group?
during meiosis II a) A1+ B
e) non-disjunction in gametes during meiosis II b) B + A2B
136) CM Gonosomal trisomies are viable because: c) A1B + O
a) both gonosomes contain only genes involved in d) A1B + A2B
sexual development e) A + A1B
b) there are few genes in X chromosome 144) CS In which of the following combinations
c) Y chromosome contains a few active genes couples cannot have children with B blood group?
d) whole chromosomes may be inactivated a) A1 + B
e) both gonosomes contain a small number of genes b) B + O
137) CS In case of codominance in heterozygous:
c) A2 + A2B
a) both allele genes are manifested
d) A2 + O
b) only recessive gene is manifested
e) A2B + A1B
c) only dominant gene is manifested
145) CS Mother has A1 blood group and her son has
d) two non-allele genes are manifested
A2. Which of the following cannot be father of child?
e) a intermediate trait is formed
a) A1
138) CS What of the following is an example of allele b) A2B
interaction? c) A2
a) epistasis d) A1B
b) gene complementarity e) there are no true answers
c) poligeny 146) CS Which of the following is not a child of this
d) complete dominance couple:
e) pleiotropy Mother: A1, MN, Rh+, Hp1-1, G
139) CS What of the following is an example of non- Father: A2B, N, Rh+, Hp1-2, g
allele interaction? Children:
a) complete dominancy a) A2B, MN, Rh-, Hp1-2, g
b) pleiotropy b) A1B, N, Rh+, Hp1-1, G
c) gene complementarity c) A2, MN, Rh+, Hp1-2, G
d) incomplete dominancy d) A1, N, Rh+, Hp1-1, g
e) poliallelism e) B, N, Rh+, Hp2-2, G
140) CS Mother has A1 blood group and her son has 147) CS Which of the following is not a child of this
A2. Which of the following cannot be father of child? couple:
a) A2 Mother: A1, MN, G
b) B Father: B, N, g
c) A1 Children:
d) A1B a) O, MN, G
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b) A2B, N, g
c) A2 , MN, G 153) CM Allele genes:
d) A1B, M, g a) may be present in many forms
e) A1, N, g b) determine the formation of different traits
c) have the same position in a homologous
148) CS Which of the following can be father of
chromosomes
child:
d) determine the formation of one trait
Mother: A1, N, Rh+, g
e) segregate during meiosis in different gametes
Child: A1, MN, Rh+, G
154) CM. Which of the following are not a type of
Father:
non-allele interactions?
a) A1, M, Rh-, g
a) complementarity
b) O, M, Rh+, G
b) epistasis
c) O, M, Rh+, g
c) multiple allelism
d) A1, MN, Rh+, g
d) pleiotropy
e) A2B, N, Rh+, G
149) CS Which of the following cannot be father of e) incomplete dominance
child: 155) CM. Epistasis:
Mother: B, M , Rh+, Hp1-1 a) is a type of non-allele interaction
Child: A1B, MN, Rh-, Hp1-2 b) may be in two forms: dominant and recessive
Father: c) one non-allele gene masks the expression of another
a) A1, N, Rh-, Hp 1-2 non-allele gene
b) A1B, MN, Rh+, Hp 1-2 d) Bombay's phenotype is a example of this interaction
c) A1B, M, Rh+, Hp 2-2 e) one allele gene masks the expression of another
d) A1, N, Rh-, Hp 2-2 allele gene
e) A1, N, Rh+, Hp 1-2 156) CM. Genomic imprinting:
150) CS Which of the following can be father of a) is a different expression of gene depending on of
child: parental origin
Mother: B, N, Rh+, Se, Hp1-1 b) it appears in result of errors in meiosis
Child: O, MN, Rh-, se, Hp1-2 c) it has a monoallelic expression
Father: d) is a functional gene modification
a) B, N, Rh+, Se, Hp1-1 e) is a structural gene modification
b) O, N, Rh+, Se, Hp1-2 157) CM. Penetrance:
c) A2, M, Rh-, se, Hp1-1 a) it refers to dominant traits
d) A1, M, Rh-, se, Hp2-2 b) it refers to severity of traits
e) A1B, MN, Rh+, Se, Hp2-2 c) it may be complete and incomplete
151) CM Which of the following can be father of
d) it is only complete
child:
e) it represents the frequency of gene manifestation into
Mother: A1B, MN, Rh-, Hp 1-2
the heterozygous genotype
Child: B, N, Rh+, Hp 2-2
158) CM Genotype may be:
Father:
a) dominant
a) A1, N, Rh-, Hp 1-2
b) homozygous
b) A1B, MN, Rh+, Hp 1-2
c) recessive
c) A1, N, Rh-, Hp 2-2
d) hemizygous
d) A1, N, Rh+, Hp 1-2
e) heterozygous
e) A1B, M, Rh+, Hp 2-2
152) CS Which of the following can be father of 159) CM. Phenocopy:
child: a) is the result of genomic imprinting;
Mother: A1B, Rh+, M, Hp 1-2 b) is the result of locus heterogeneity
Child: A1, Rh-, MN, Hp 2-2 c) it appears on influence of environment factors
Father: d) is a non-hereditary phenotypic modification
a) A1, Rh+, MN, Hp 1-1 e) it mimics an abnormal hereditary trait in normal
b) O, Rh-, MN, Hp 1-2 phenotype
c) A2B, Rh-, M, Hp 1-2 160) CM Mother has O blood group and her child -
d) A2, Rh+, N, Hp 2-2 A1. What groups may have father?
e) B, Rh+, M, Hp 1-2 11
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a) A2 c) eye color
b) A1B d) arterial tension
c) O e) weight
d) A2B
167) CM The melanin quantity in skin:
e) A1
a) is a monogenic trait
161) CM Which of the following cannot be father of b) is determined by allelic genes
child: c) is determined by 2 or more genes located in the same
Mother: A1, M, Rh-, se chromosome
Child: B, MN, Rh-, se d) is determined by 2-6 non-allelic genes
Father: e) is distributed continuously in human population
a) A2, M, Rh+, Se 168) CM Which of the following are not polygenic
b) A1B, N, Rh-, Se human traits?
c) A1, M, Rh+, se a) blood type system ABO
d) B, N, Rh+, Se b) Rh-factor
e) A2B, N, Rh-, se c) eye color
162) CM Which of the following cannot be father of
d) arterial tension
child:
Mother: A1, M, Rh-, se e) weight
Child: B, MN, Rh+, se 169) CS Which of the following characterize multiple
Father: action of gene?
a) A2, M, Rh+, Se a) panmixia
b) A1B, N, Rh-, Se b) pleiotropy
c) A1, M, Rh-, se c) polymorphism
d) A2B, M, Rh-, se d) polyallelism
e) B, N, Rh+, Se e) polygeny
163) CM Which of the following cannot be father of 170) CS Which of the following is not a characteristic
child: of allele genes?
Mother: B, M, Rh+, Hp 1-1 a) may be identical in homologous chromosomes
Child: O, MN, Rh-, Hp 1-2 b) may interact with other genes
Father: c) have a specific place in chromosome
a) A1, N, Rh-, Hp 1-2 d) always determine a single trait
b) A1B, M , Rh+, Hp 2-2 e) a gene may contain multiple alleles
c) A1, N, Rh-, Hp 2-2 171) CS What is a characteristic of gene linkage?
d) A1B, MN, Rh+, Hp 1-2 a) usually is complete
e) A2B, N, Rh-, Hp 1-1 b) takes place when genes are located on different
164) CM. Which of the following are human chromosomes
monogenic traits? c) takes place when genes are located on the same
a) height chromosomes
b) skin colors d) takes place between codominant genes
c) ABO blood typing system e) takes place only between dominant alleles
d) Rh factor 172) CS What is not a characteristic of chromosome
e) tissue antigens (HLA) map?
165) CM Polygenic traits: a) one may contain genes from different chromosomes
a) have a continuous distribution in human population b) closed genes are inherited together
b) are determined by series of allelic genes c) unit of distance is centimorgan
c) are determined by non-allelic genes form different d) the number of maps is the same as number of
chromosomes linkage groups
d) genes have a cumulative (additive) effect e) represents location of genes in chromosome
e) are multifactorial 173) CS Chromosomal theory of inheritance was
166) CM Which of the following are polygenic human proposed by:
traits? a) Hardy
a) blood type system ABO b) T. Morgan
b) Rh-factor c) Weinberg
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d) N. Vavilov origin
e) G. Mendel b) is assured by methilation of some DNA sequences
c) monoallelic gene expression
174) CM Which of the following correspond to d) selective inactivation of some genes
chromosomal theory of inheritance? e) selective activation of some genes
a) all the genes from a linkage group are inherited
separately 181) CM Non-allele gene interactions are represented
b) between homologous chromosomes crossing-over by:
may occur a) co-domination
c) genes from a linkage group are inherited together b) gene complementarity
d) genes located in one molecule of DNA represent a c) epistasy
linkage group d) intermediate dominancy
e) genes are located in chromosomes e) polyallelism
175) CM Which of the following characterize both 182) CM Characteristics of dominant alleles:
ABO and HLA systems? a) dominant alleles cannot produce diseases
a) are determined by a pair of alleles b) is always expressed
b) are 100% hereditary traits c) expression is not depending on the second allele
c) have a multigenic determination d) are expressed only in presence of an identical allele
d) assure human genetic polymorphism e) are expressed in both homo- and heterozygous
e) poliallelism 183) CM Genes:
176) CM Monogenic traits have the following a) may be allele or non-allele
characteristics: b) always are present in pairs
a) always are 100% hereditary traits c) may be homologous or non-homologous
b) mostly a determined by environment factors d) may be dominant or recessive
c) are mendelian traits e) determine traits
d) are determined by allelic genes 184) CM The genotype may be:
e) are determined by expression of two alleles a) heterozygous
177) CM Characteristics of Bombay phenotype: b) homozygous
a) the phenotype is similar to O blood group c) recessive
b) always is associated with genotype Sese d) hemizygous
c) represents an example of epistasy between Se and e) dominant
ABO genes 185) CM Which of the following traits have polygenic
d) absence of ABO antigens on surface of erythrocytes determinism?
e) presence of anti-A and anti-B in blood serum a) secretor status
178) CM Imprinting is characterized by: b) Rh blood group
a) only paternal allele is inactivated c) height
b) both alleles are inactivated d) blood pressure
c) uniparenatl disomy leads to abnormal development e) skin color
d) is determined by gene inactivation during 186) CS Gene mutations may be:
gametogenesis a) numeric
e) monoallelic gene expression b) only recessive
179) CM Monogenic traits have the following c) lethal
characteristics: d) only somatic
a) may be 100% hereditary traits e) phenotypic
b) may be determined by multiple alleles
187) CS Mutation cannot be:
c) are determined by non-allelic genes located in
a) chromosomal
homologous loci
b) gene
d) are determined by allele genes located in different
c) phenotypic
loci
d) point
e) are mendelian
180) CM Which of the following are characteristics of e) genomic
genomic imprinting? 188) CS Which mutation can be inherited?
a) imprinted allele depends on maternal or paternal a) somatic spontaneous
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b) somatic induced
c) lethal 196) CS Which karyotype is associated with Edward's
d) generative syndrome?
e) all of them a) 47, XY,+21
b) 47, XXY
189) CS Which of the following does not change the
c) 47, XX,+13
quantity of genetic material?
d) 47, XY,+18
a) duplication
e) 45,XX, rob(13;21)
b) deletion
197) CS Which karyotype is associated with Patau
c) substitution
syndrome?
d) trisomy
a) 47, XX,+18
e) polyploidy
b) 47, XYY
190) CS Which formula represents polyploidy?
c) 47, XY,+13
a) 2n+2
d) 46, XX, 5p-
b) 2n
e) 47, XXX
c) 2n+1
198) CS Which of the following rearrangements is
d) 3n
not a mutation?
e) 2n-1
a) combinative
191) CS Which of the following is not a structural b) chromosomal
chromosomal aberration? c) gene
a) deletion d) genomic
b) duplication e) somatic
c) monosomy 199) CS Which of the following karyotypes does
d) translocation correspond to the Kleinfelter syndrome?
e) inversion a) 47,XXY
192) CS Which of the following kariotype cannot be b) 47, XYY
in Turner syndrome? c) 46, XXY
a) 46,X,i(Xq) d) 47, XXX
b) 45,X e) 45,X
c) 47,XXX 200) CS Which of the following is viable monosomy
d) 46,XX/45,X in human?
e) 46,X,Xp- a) monosomy 13
193) CM Which of the following mutations cannot be b) monosomy 21
in newborns? c) monosomy X
a) 47,XY,+1 d) monosomy Y
b) 45,XO e) monosomy 3
c) 47,XYY 201) CS Which of the following karyotypes does
d) 45,XX,-21 correspond to the Turner syndrome?
e) 47,ХХХ a) 47,XXY
194) CS Which of the following is an equilibrated b) 47, XYY
chromosomal mutation? c) 46, XXY
a) 46,X,i(Yq) d) 47, XXX
b) 45,XY,rob(13;21) e) 45,X
c) 46,XX,9q- 202) CS A man with Klinefelter syndrome has
d) 46,XX,16qh+ genotype Xg(a+). His mother is Xg(a-) and his father is
e) 47,XY,+18 Xg(a+). Determine, when and where did occur
195) CS Which of the following is a non-equilibrated gonosome non-disjunction in meiosis:
chromosomal mutation? a) non-disjunction in meiosis I, paternal
a) 45,XX,rob(21;21) b) non-disjunction in meiosis II, paternal
b) 46,XY,1qh+ c) non-disjunction in meiosis I, maternal
c) 46,XY,inv(4)(q13q23) d) non-disjunction in meiosis II, maternal
d) 46,XY,t(2;8),(q13;q12) e) post-zygotic non-disjunction
e) 46,XX,r(5),(q15q35)
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203) CS Choose the most frequent clinical trait in case 211) CM Gene mutations may be:
of Klinefelter syndrome: a) induced
a) high stature b) spontaneous
b) gynecomasty c) equilibrated
c) poor beard growth; d) non-equilibrated
d) testicular atrophy e) somatic
e) mental retardation 212) CM Spontaneous mutations:
204) CM Mutations may be: a) appear under influence of physical, chemical and
a) hypermorphic biological factors
b) hypomorphic b) may be errors during replication
c) gene c) may determine the lethal genes appearance
d) amorphic d) have a constant frequency
e) only somatic e) aren't predictable
205) CM Which of the following are gene mutations? 213) CM Substitutions:
a) translocation a) modify only one amino acid
b) substitution b) modify the group of amino acids
c) monosomy c) may annul another mutation
d) insertion d) may block synthesis of one polypeptide chain
e) transversion e) may modify structure of promoter, exons, introns or
206) CM Substitution in one gene may induce: termination sequences
a) missens mutation 214) CM Dynamic mutations:
b) nonsense mutation a) are characterized by instability
c) frame-shift mutation b) depend on the cell division
d) deletion c) depend on the trinucleotide repeats number
e) amesens mutation d) determine differences in phenotypic manifestation in
207) CM Which of the following mutations may be parents and offspring
found in newborns? e) occur only during oogenesis
a) 92, XXXX 215) CM Gene mutations:
b) 45, XY,-12 a) modify the structure and functions of gene
c) 47, XY,+8 b) may be in introns
d) 46, X, (Xq-) c) may be only in exons
e) 45, X d) change the reading frame
208) CM Which of the following are non-equilibrated e) mutant protein is always inactive
chromosomal errors? 216) CM Phenotypic variability:
a) 46,XY, r(10)(p15q22) a) modifications of traits in reaction norm limits
b) 45,XX, rob(14;21) b) modifications of traits out the limits of reaction norm
c) 46,XY, inv(9)(p14q23) c) has an adaptive role
d) 46,X,i(X) d) may be produced only during the prenatal period of
e) 46,XX,del(4)(P15 pter) development
209) CM Which of the following errors are lethal? e) appears during entire life
a) 69,XXX 217) CS Which from the following may lead to
b) 45,Y structural gene transcription block?
c) 45,XY,-2 a) non-sense mutation
d) 46,XX, 9qh+ b) deletion of one codon
e) 47,XXY c) frame-shift mutation
210) CM Gene mutations may be: d) deletion in TATA box
a) X-linked e) deletion of one exon
b) dominant 218) CM Which of the following characterize Turner
c) induced syndrome?
d) phenotypic a) short stature
e) dynamic b) primary amenorhea
c) neck of sphinx
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d) testicular atrophy e) changes in phenotype
e) mental retardation
226) CS Which mutation may be inherited?
219) CM Man with Kleinfelter syndrome has a) mutations cannot be inherited
genotype Xg(a+). His mother is Xg(a+) and his father b) lethal
is Xg(a-). Determine, when and where did occur c) generative
gonosome non-disjunction in meiosis: d) somatic induce
a) non-disjunction in meiosis I, paternal e) spontaneous somatic
b) non-disjunction in meiosis II, paternal 227) CS Which of the following is not a characteristic
c) non-disjunction in meiosis I, maternal of human chromosomal mutations?
d) non-disjunction in meiosis II, maternal a) usually have an adaptive role
e) post-zygotic non-disjunction b) appear in somatic cells
220) CM Choose the clinical trait in case of Patau
c) are induced by mutagens
syndrome:
d) may be structural
a) reduced fertility
e) may be numeric
b) high stature
228) CS Which mutation does not exist?
c) non-development of eyes
a) phenotypic
d) neck of sphinx
b) somatic
e) polydactily
c) that are inherited
221) CM Which of the following does occur in new-
d) recessive
born with Edward's syndrome?
e) lethal
a) high stature
b) short fingers 229) CS Structural chromosomal mutations do not
c) non-development of eyes include:
d) microcephaly a) duplication
e) big low-set ears b) monosomy
222) CM Which of the following are viable genome c) deletion
mutation in human? d) translocation
a) triploidy e) inversion
b) monosomy 21 230) CS Frame-shift mutations are produced by:
c) monosomy X a) insertion of two nucleotides
d) trisomy X b) duplication of three nucleotides
e) trisomy 21 c) substitution
223) CS Which of the following is not a gene d) inversion
mutation? e) loss of six consecutive nucleotides
a) lethal 231) CS Splicing mutations are caused by:
b) dynamic a) mutation at 3' end of gene
c) aneuploidy b) mutation is leader sequence
d) amorphic c) mutations at limit between exon and intron
e) isomorphic d) mutations in exon
224) CS Which of the following is not a characteristic e) mutations in promoter
of gene mutations? 232) CS which of the following may stop
a) may be aneupoidy transcription?
b) may be produced in promoter a) deletion of leader sequence
c) may appear as result of non-equal crossing-over b) deletion of TATA-box
d) the sequence of nucleotides is changed c) frame-shift mutation
e) may be point d) deletion of a codon
225) CS Which of the following is not a characteristic e) nonsense mutation
of modifications? 233) CS What mutation may provoke loss of one
a) modifications have adaptive role amino acid?
b) changes are produced in genetic material a) three nucleotide expansion
c) changes are determined by norm of reaction b) deletion of three adjacent nucleotides
d) changes induced by environment factors c) insertion of one codon
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d) deletion of one nucleotide
e) substitution 242) CM Which of the following are examples of
modifications?
234) CS Polyploidy represents: a) albinism
a) a modification b) polydactylism
b) a structural chromosomal mutation c) development of music talent
c) a genomic mutation d) skin color changes under UV light
d) an example of combinative variability e) the concentration of hemoglobin increases at low
e) a gene mutation concentrations of oxygen in atmosphere
235) CM Somatic mutations: 243) CM Hereditary variations:
a) may change cell activity a) represent the main sours of variations for selection
b) may induce a tumor b) change only phenotype
c) may induce apoptosis c) represent the result of mutations and recombination
d) are not inherited d) are inherited through generations
e) are inherited e) are determined by changes in genetic apparatus
236) CM Variability: 244) CM Norm of reaction:
a) assure selection a) determines the range of recombination
b) may have an adaptive role b) determines the range of mutations
c) may be determined by independent segregation of c) determines the range of modifications
chromosomes in meiosis d) is genetically determined
d) represent the propriety to obtain new traits e) represents changes of genetic apparatus under
e) is determined by exact replication of DNA environment
237) CM Mechanisms of gene mutations are: 245) CM Individuality of each person is determined
a) error during replication by:
b) inversion of a sequence of nucleotide a) recombination during gametogenesis in both parents
c) deletion of a chromosomal arm b) mutations that appear during the life
d) substitution of nucleotides c) exact replication of DNA during gametogenesis
e) deletion or addition of nucleotides d) conditions of realization of genetic information
238) CM Characteristics of gene mutations: e) new gene combination in zygote
a) assure formation of multiple alleles 246) CM Variability:
b) may produce chromosomal mutations a) always is determined by changes in genetic material
c) appear under action of mutagens b) explains family traits
d) may be numeric c) assures adaptation in new conditions
e) may produce metabolic diseases d) is represented by different traits expressed in
239) CM Characteristics of point mutations: different members of a population
a) may produce a shorter polypeptide e) represents the universal propriety of organisms to
b) may produce a synonym codon obtain new traits
c) may be seen under microscope 247) CM Genomic mutations may be:
d) may produce a STOP codon a) point
e) change only phenotype b) equilibrated
c) generative
240) CM Substitution of one nucleotide induces:
d) autosomal
a) changes at level of one amino acid only
e) somatic
b) a frame-shift mutation
c) a missense mutation 248) CS Which type of inheritance is characterized by
d) formation of a synonym codon expressivity and penetrance?
e) formation of a nonsense codon a) autosomal dominant
b) autosomal recessive
241) CM Characteristics of phenotypic variability:
c) gonosomal dominant
a) changes may occur in promoter
d) gonosomal recessive
b) new traits are inherited
e) codominant
c) phenocopy is an example
249) CS Which of the following criteria do not
d) ontogenetic changes
characterize dominant inheritance?
e) changes in limits of norm of reaction
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a) high frequency in the family environment factors
b) expression in each generation d) they are pure hereditary traits
c) if both parents are healthy they can have affected e) are inherited according to Mendel lows
children
256) CS Which of the following affirmations
d) if both parents are affected they can have healthy
concerning criteria for autosomal dominant inheritance
children
is wrong?
e) if both parents are healthy they can have healthy
a) continuity in inheritance from one generation to
children
250) CS Which of the flowing represents a criterion for another one
recognition of gonosomal recessive inheritance? b) high frequency in the family
a) the continuity of the inheritance in each generation c) two healthy parents may have affected children
b) if both parents are affected, they may have healthy d) two affected parents may have healthy children
children e) the frequency of affected children is not influenced if
c) an affected father may have both affected and parents are relatives
257) CS Multifactoiral diseases:
healthy sons a) have a monogenic determination
d) healthy mother always has healthy sons b) are independent on environment factors
e) if both parents are healthy, only sons can be affected c) have a discontinuous distribution
251) CS In which type of inheritance the frequency of
d) are produced by a mutation in a single gene
affected children significantly increases in case of
e) are produced by mutations in a different non-allelic
consanguineous marriages?
genes
a) autosomal dominant
258) CS Genealogical inheritance of abnormal
b) autosomal recessive
monogenic traits:
c) gonosomal dominant
a) is produced according to Mendel lows
d) gonosomal recessive
b) is produced through somatic cells
e) cytoplasmatic (mitochondrial)
c) is produced exclusively by autosomal genes
252) CS Which of the following represents a criterion
of recognition for gonosomal dominant diseases? d) is produced exclusively by X-linked genes
a) affected father may have affected and healthy e) depends on environment factors
daughters 259) CS Which of the following affirmations
b) affected father always have affected daughters concerning criteria for X-dominant inheritance is
c) affected father have affected sons wrong?
d) affected parents may have healthy children: both a) two affected parents may have healthy sons
boys and girls b) disease may be inherited from father to son
e) two healthy parents may have affected children c) if mother is healthy and father is affected only sons
253) CS Which of the following represents a criterion will be healthy
of recognition for recessive diseases? d) heterozygous affected mother may have healthy
a) high frequency in the family children
b) the continuity of the inheritance e) affected father affected has only affected daughters
c) affected parents may have healthy children and healthy sons
260) CM What of the following can be identified using
d) two healthy parents may have affected children analyses of family trees?
e) affected father always has affected daughters a) type of inheritance
254) CS Which of the following represents a criterion b) chromosomal abnormalities
of recognition for dominant diseases? c) polygenic diseases
a) low frequency in the family d) congenital abnormalities
b) affected persons are not present in each generation e) the type of chromosome involved in disease
c) affected parents have always affected children 261) CM Variations in phenotypic manifestation of the
d) two healthy parents may have affected children autosomal dominant genes are determined by:
e) high frequency in the family a) non-complete penetrance
255) CS Which of the following affirmations b) chromosomal mutations
concerning abnormal monofactorial traits is wrong? c) variable expressivity
a) they represent results of mutations in gene d) mitochondrial mutations
b) the phenotype depends on a single gene e) dynamic mutations
c) the phenotype depends on many genetic and
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262) CM Select the traits determined by the human e) color blindness
genes with non-complete penetrance:
a) Rh factor 269) CM Select wrong affirmations concerning
b) hemophilia dominant inheritance:
c) sindactilia a) low frequency in the family
d) albinism b) high frequency of consanguine marriages
e) polydactilia c) heterozygous persons are healthy
263) CM Penetrance: d) heterozygous persons are affected
a) represents the frequency of manifestation in e) two healthy parents may have affected children
phenotype of an autosomal recessive gene 270) CM Which of the following are criteria of
b) represents the frequency of manifestation of in recognition for dominant diseases?
phenotype a X-linked gene a) low frequency in the family
c) represents the frequency of manifestation of in b) healthy parents have always healthy children
phenotype an autosomal dominant gene c) affected parents may have healthy children
d) may be complete and non-complete d) affected parents have always affected children
e) is characterized by variable phenotypic manifestation e) the continuity of inheritance in the generation's
of the gene succession
271) CM Which of the following are criteria of
264) CM Select correct affirmations concerning recognition for autosomal dominant diseases?
consanguinity: a) affected father may have just affected daughters
a) represents the marriage between two relatives b) low frequency of disease in the family
b) increases the risk for recessive diseases c) affected father may have affected and healthy
c) increases the risk for dominant diseases daughters
d) risk for disease increases in case of X-linked d) two healthy parents may have affected children
dominant inheritance e) two affected parents may have healthy children of
e) risk for disease increases in case of autosomal both genders
recessive inheritance 272) CM Which of the following are criteria of
265) CM Monogeneic inheritance: recognition for autosomal recessive diseases?
a) corresponds to Mendel pattern of inheritance a) affected mother has all the sons affected
b) can be dominant or recessive b) two healthy parents may have affected children of
c) an example is skin color both genders
d) may be multifactorial c) healthy parents have only healthy sons
e) characterizes some diseases d) the continuity of the disease's inheritance in the
266) CM Select genetic diseases with gonosomal generation's succession
recessive inheritance: e) an healthy father may have affected daughters and
a) Duchenne muscular dystrophy sons
b) hemophilia 273) CM Which of the following are criteria of
c) albinism recognition for recessive diseases?
d) phenylketonuria a) affected parents may have healthy children
e) Becker muscular dystrophy b) healthy mother may have affected and healthy sons
267) CM Select genetic diseases with autosomal c) high frequency in the family
recessive inheritance: d) affected parents have all affected children
a) Duchenne muscular dystrophy e) healthy parents may have affected children
b) phenylketonuria 274) CM In dominant inheritance an affected mother:
c) albinism a) may have affected sons
d) Becker muscular dystrophy b) may have healthy sons
e) hemophilia c) may have affected daughters
268) CM Select genetic diseases with autosomal d) may have healthy daughters
dominant inheritance: e) all the children should be affected
a) achondroplasia 275) CM Which of the following are criteria of
b) hemophilia recognition for X-recessive diseases?
c) arahnodactilia a) all the sons of affected mother should be affected
d) albinism b) all the daughters of affected mother should be
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affected 282) CS The disease determinate by mutation in one
c) an affected mother cannot transmit the disease to her gene is called:
daughters a) congenital
d) healthy father has only healthy daughters b) monogenic
e) two healthy parents may have just affected sons c) autosomal
276) CM The recognition of the hereditary disease is d) dominant
possible when the disease: e) recessive
a) has a higher frequency in particular family than in 283) CS What diseases are produced as a result of
the population interaction of genetic and environmental factors?
b) has a higher frequency in consanguineous marriages a) chromosomal diseases
c) is present in all or almost members of the studied b) multifactorial diseases
family c) monogenic diseases
d) is produced by somatic mutations d) enzymopathies
e) follow the mendelian inheritance e) X-linked diseases
277) CM Family tree analysis is used for: 284) CS In which type of inheritance the gene has
a) identification if the trait is hereditary or phenotypic expression only if two identical alleles are
environmental present?
b) identification of distribution of genotypes in a) autosomal recessive
population b) autosomal dominant
c) identification of chromosomal aberrations c) X-linked
d) identification type of inheritance d) multifactorial
e) prenatal diagnosis e) Y-linked
278) CM Dominant traits are determinate by: 285) CS Diseases expressed in newborn are called:
a) phenotypic expression of one allele in heterozygous a) congenital
b) for phenotypic expression identical alleles are b) monogenic
required c) autosomal
c) homozygous and heterozygous persons have the d) dominant
same traits e) recessive
d) environment factors only 286) CS In a family both parents are healthy and the
e) pairs of dominate non-allele genes first child has phenilcetonuria (autosomal recessive
279) CM Which from the following traits are disease). What is the risk for disease for the next child?
polygenic? a) 5%
a) the stature b) 10%
b) iris pigmentation c) 25%
c) haptoglobins d) 50%
d) MN blood system e) 75%
e) physical abilities 287) CS In a family both parents are healthy the first
280) CM Which of the following are criteria of child has mucoviscidosis (autosomal recessive disease)
recognition for polygenic traits? and the second child is healthy. What is the risk for
a) correspond to the mendelian pattern of inheritance disease for the next child?
b) display a wide phenotypic variation a) 5%
c) the diseases are more frequent in consanguineous b) 10%
marriages c) 25%
d) have a familial aggregation d) 0%
e) are produced in males only e) 50%
281) CM In which type of diseases environmental 288) CS In a family the mother is a carrier of
factors have a high importance? Duchenne muscular dystrophy gene (X-liked disease),
a) autosomal dominant and the father is healthy. What is the risk for disease for
b) autosomal recessive the next child?
c) gonosomal a) 5%
d) polygenic b) 10% for both sexes
e) multifactorial c) 25% just for daughters
d) 0%
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e) 50% just for sons e) Robertson's translocation
289) CS The frequency of what diseases will increase 296) CS The cause of monogenic hereditary diseases
if mother is older than 35? can be?
a) multifactorial a) structural chromosomal abnormalities
b) X-recessive b) number chromosomal abnormalities
c) autosomal recessive c) Robertson's translocation
d) autosomal dominant d) gene's mutation
e) chromosomal e) the influence of environment's factors
290) CS In a family mother has phenylketonuria 297) CS The cause chromosomal disease is:
(autosomal recessive disease), and father is a) gene mutation
homozygous by normal allele. What is the risk for b) somatic mutation
disease for the next child? c) mitochondrial mutation
a) 5% d) genome mutation
b) 10% e) "frame shift" mutation
c) 25% 298) CS Which of the following cannot be used for
d) 0% prenatal diagnosis?
e) 50% a) ultrasonography
291) CS For what type of inheritance consanguinity b) amniocentesis
increases the risk for diseases? c) dermatoglyphics analysis
a) multifactorial d) phetoscopy
b) autosomal recessive e) alpha fetoprotein
c) autosomal dominant 299) CS Which of the following measures is not
d) cytoplasmic (mitochondrial) reported to the hereditary diseases prophylaxis?
e) X-dominant a) identification of some recessive alleles' carriers
292) CS Marfan syndrome is inherited as: b) identification of some dominant alleles carriers
a) autosomal dominant c) identification of poised (equilibrated) translocation's
b) autosomal recessive carriers
c) X-recessive d) reduction of the parent's age of reproduction
d) X-dominant e) avoidance of consanguineous marriages
e) polygenic 300) CM Which of the following are the characteristics
293) CS In a family the father has Marfan syndrome of dominant genes?
(autosomal dominant disease) and mother is healthy. a) powerful genes
What is the risk for disease in this family? b) weak genes
a) 5% c) express in homozygotes and heterozygotes
b) 10% d) express in homozygotes only
c) 25% e) may be only normal
d) 50% 301) CM Which of the following are the characteristics
e) 75% of recessive genes?
294) CS In a family the mother is healthy (her parents a) powerful genes
are healthy too), and the father has hemophilia (X- b) weak genes
linked recessive disease). What is the risk for disease in c) express in homozygotes and heterozygotes
this family? d) express in homozygotes only
a) 50% for daughters only e) may be only abnormal
b) 50% for both genders 302) CM Choose the types of allele interactions:
c) 25% for sons a) dominancy
d) 0% for both genders b) epistasis
e) 50% for sons only c) codominancy
295) CS Genic diseases are determinate by:
d) additive polygeny
a) chromosomal deletion
e) multiple alleles
b) increased number of chromosomes
c) a reciprocal translocation 303) CM Choose the types of non-allele interactions:
d) a gene mutation a) codominancy
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b) epistasis b) 47,XY,+21
c) gene complementarity c) 45,XX,rob (21;21)
d) additive polygeny d) 46,XX/47,XX,+21
e) multiple alleles e) 46,XY/47,XY,+21
304) CS Which of the following is not a characteristic 311) CS Phenocopy is an example of:
of genetic disorders? a) recombination
a) inheritance b) mutation
b) familial aggregation c) modification
c) prenatal determination d) ontogenetic variability
d) congenital manifestation e) translocation
e) always is present in newborn 312) CS Genocopy is an example of:
305) CS Roberts's translocation: a) recombination of allele genes
a) is the most common translocation found in man b) mutation of non-allele genes
b) represents the fusion of short arms of metacentric c) mutation of allele genes
chromosomes d) ontogenetic variability
c) represents the fusion of long arms of submetacentric e) modification
chromosomes 313) CM Genetic disorders may be:
d) represents the fusion of short arms of acrocentric a) ecological
chromosomes b) monogenic
e) represents the fusion of long arms of acrocentric c) polygenic
chromosomes d) multifactorial
306) CM Which of the following lead to partial
trisomy? e) chromosomal
a) duplication 314) CS Which of the following is not a chromosome
b) isochromosome disease?
c) deletion a) Patay syndrome
d) inversion b) Marfan syndrome
e) translocation c) Down syndrome
307) CM Which of the following is the partial d) Edward's syndrome
monosomy? e) Turner syndrome
a) duplication 315) CS Which of the following is a monogenic
b) isochromosome disease?
c) deletion a) Patay syndrome
d) inversion b) Marfan syndrome
e) translocation c) Down syndrome
308) CS Which of the following karyotypes doesn't d) Edward's syndrome
refer to Turner syndrome? e) Turner syndrome
a) 45,X 316) CM Chromosome diseases may be:
b) 45,X/46,XX a) numerical
c) 46,XXq+ b) multifactorial
d) 46,XXq- c) monofactorial
e) 46,XXp- d) structural
309) CS Which of the following karyotypes doesn't e) gonosomal
refer to Klinefelter syndrome? 317) CM Gene diseases may be:
a) 47,XXY a) numerical
b) 47,XYY b) multifactorial
c) 48,XXXY c) monofactorial
d) 48,XXYY d) structural
e) 49,XXXXY e) gonosomal
310) CS Which of the following karyotypes doesn't 318) CM Choose from the following the indications
refer to Down syndrome? for karyotyping:
a) 47,XX,+21 a) mental retardation
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b) hemolytic disease of new born
c) ambiguous genitalia
d) sterility
e) multiple malformation of newborn
319) CM Multifactorial diseases:
a) are produced just by multiple abnormal genes
b) usually are common disorders
c) may be present as isolated malformation
d) produced by genes and environmental agents
e) don't depend on environmental factors
320) CS Which of the following is not a characteristic
of congenital anomalies?
a) are produced after birth
b) are produced during embryogenesis
c) may be isolated or multiple
d) may appear as result of phenocopy
e) are produced by genetic or environmental factors
321) CM Mitochondrial diseases:
a) are produced by mutations in nuclear DNA
b) are produced by mutations in mtDNA
c) have paternal inheritance
d) have maternal inheritance
e) are present only in woman
322) CM Primary prophylaxis refers to the:
a) early identification of genetic disorder
b) later identification of genetic disorder
c) prenatal identification of genetic disorder
d) avoiding of the production of genetic disorders
e) treatment of genetic disorder
323) CS Secondary prophylaxis refers to the:
a) early identification of genetic disorder
b) later identification of genetic disorder
c) prenatal identification of genetic disorder
d) avoiding of the production of genetic disorders
e) treatment of genetic disorder
324) CM Primary prophylaxis could be achieved by
the following actions:
a) prevention of mutation
b) reduction of reproductive age under 30 years in
women
c) reduction of reproductive age under 50 years in men
d) heterozygote identification
e) homozygote identification
23

Human Genetics Test-1

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Human Genetics Test-1

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Human Genetics - CS

Bessisy Tamir 1143

17) Which of the following don't characterize heterochromatin?

25) What the term "karyotype" does mean?

41) What is number of Barr bodies in normal karyotype of women?

65) Which of the following formula corresponds to the prophase of mitosis?

81) What of the following is an example of allele interaction?

89) Which of the following is not a child of this couple:

94) Which of the following can be father of child:

110) Which karyotype is associated with Edward's syndrome?

126) Frame-shift mutations are produced by:

e. [X] 50% just for sons

d. [X] gene's mutation

166) Phenocopy is an example of:

1) Human genetics studies:

17) Chromosome pairs differ by:

25) Which of the following describe female caryotype?

33) Chose the karyotypes of persons with normal phenotype:

41) Which of the following errors are always lethal?

49) Analysis of X-chromatin assures:

57) Gonosomal trisomies are viable because:

64) Genotype may be:

70) Which of the following are human monogenic traits?

78) Characteristics of Bombay phenotype:

86) Which of the following traits have polygenic determinism?

94) Gene mutations may be:

102) Choose the clinical trait in case of Patau syndrome:

110) Substitution of one nucleotide induces:

126) Select genetic diseases with autosomal dominant inheritance:

142) Choose the types of allele interactions:

150) Multifactorial diseases:

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