Gene Molecular unit of life some stretches of

deoxyribonucleic acids (DNA) and

ribonucleic acids (RNA) that code for a
polypeptide or for a RNA chain that
functions in the organism.

Genome
genetic material of an organism contained
in the basic (haploid) chromosome group.

Allele
variant of a gene, located at the
same place in a pair of
homologous chromosomes

recessive – allele which is manifested only

in homozygotes

• dominant - allele which is manifested

both in heterozygotes as well as in
homozygotes

Locus
location (place) on a chromosome, wherein
allele is located

Dominant
allele which is manifested both in
heterozygotes as well as in homozygotes

Recessive
allele which is manifested only in
homozygotes

Genotype
the total genetic information (a set of genes) of
an organism
Phenotype
a set of characteristics which make up the whole organism
(morphological and functional)

Homozygote An organism which has the same alleles of a

given gene

Heterozygote Organism which has two different allele of a

given gene

Co dominance Occurs when the contributions of both alleles

are visible in the phenotype. Heterozygotes
show up both alleles of a given gene.
-the genotype can be specified on the
phenotype

Incomplete dominance Heterozygote has intermediate phenotype

compared to the parental homozygous
phenotype

Polygene -multiple gene inheritance

-a group of non-allelic genes that influence a
phenotypic trait (the same attribute) together

Pleiotropy One gene influences multiple attributes, is

a
group of non- allelic genes that
influence a phenotypic trait (the same
attribute) together
• Polygenic inheritance occurs when one characteristic
is controlled by two or more genes. Often the genes
are large in quantity but small in effect.

-L-DOPA and melanin

Law of segregation
Every individual contains a pair
of alleles for each particular
trait which segregate or
separate during cell division
for any particular trait and that
each parent passes a
randomly selected allele to its
offspring.

Law of independent assortment

also known as "Inheritance Law", states
that separate genes for separate traits
 are passed independently of one another
from parents to offspring.

Epistasis The effect of one gene is dependent on the

presence of one or more modifier genes
(genetic background)

-epistatic gene = masking

-hipostatic gene = masked gene

Polgenic inheritance Occurs when one characteristic is controlled by

two or more genes. Often the genes are large in
quantity but small in effect.

Recessive epistasis
The recessive allele of one gene in the
homozygous state suppresses the expression of
a dominant allele of another.

9:4:3 ratio

Duplicate recessive epistasis

Recessive allele of each gene in the
homozygous state suppresses the
expression of a dominant allele of
another.

-complmentary interaction of genes

-9:7 ratio

Dominant epistasis
The dominant allele of one gene
suppresses the expression of a dominant
allele of another.
Mitochondrial diseases:
-muscle = mitochondrial myopathy
-brain = neuropathy, ataxia

Heteroplasmy - the presence of more than one type of organellar genome, within a cell or
individual.
MERRF syndrome - abnormal mitochondria with crystalline inclusions. Myoclonic jerks,
nervous & skeletal system. RaggedRedFibers

Mitochrondrial encephalopathy, lactic acidosis, stroke-like episode: MELAS childhood,

2-15yrs, nervous system and muscles. Seizures, headache, loss of appetite .and recurrent
vomiting. Temporary muscle weakness on one side of the body.

Leber hereditary optic neuropathy - mutations in mitochondrial dna, strictly transmitted

by maternal inheritance, sometimes neurological conditions and ataxia, poor coordination

Maternal effect = phenotype of an organism is determined by the environment and

genotype of it’s mother. Female supplying mRNA or/and to the egg

Extrachromosomal inheritance:
-semi autonomous organelles, mitochondria, chloroplasts
-inherited only from the mother, ovum has about 100 thousand mitochondrions
-sperm cell contains 50 to 100 mitochondrions which do not enter into the ovum during
fertilisation

Homologous chromosomes have the same genes at the same locations

G0
- A resting phase where the cell has left the cycle and has stopped
dividing.
G1
- Cells increase in size in Gap 1. The G1
checkpoint control mechanism
ensures that everything is ready for DNA synthesis.
S - DNA replication occurs during this phase.
G2
- During the gap between DNA synthesis and mitosis, the cell will
continue to grow. The G2
checkpoint control mechanism ensures that
everything is ready to enter the M (mitosis) phase and divide.
M - Cell growth stops at this stage and cellular energy is focused on the
orderly division into two daughter cells. A checkpoint in the middle of
mitosis (Metaphase Checkpoint) ensures that the cell is ready to complete cell division

Mitosis - cell division into two daughter cells (diploid). identical

Meiosis - cell division into four daughter cells (haploid) non identical
Meiosis steps:
Meiosis 1: - prophase I
-Metaphase I
- Anaphase I
- Telophase I
Meiosis 2: -prophase II
-Metaphase II
- Anaphase II
- Telophase II

Prophase I
• Leptotene - individual chromosomes change from the diffuse state
they exist in during the cell's period of growth and gene
expression, and condense into visible strands within the
Nucleus.

• Zygotene - Conjugation of homologous chromosomes

◦ Creating a bivalent (tetrad)
The synapsis (pairing/coming together) of
homologous chromosomes takes place, facilitated
by assembly of central element of the
synaptonemal complex

• Pachytene- End of chromosomes conjugation, Stage when chromosomal crossover

(crossing over) occurs

• Diplotene - The synaptonemal complex degrades and homologous

chromosomes separate from one another a little.
The chromosomes themselves uncoil a bit, allowing
some transcription of DNA.
Homologous chromosomes of each bivalent remain
tightly bound at chiasma,
◦ the regions where crossing-over occurred

• Diakinesis - Further chromosomes condensation

•Disintegration of nucleoli
•Disintegration of nuclear membrane
•Continuation of further stages of meiosis

Metaphase I
The chromosomes align at the metaphase
plate.
The two centrosomes start pulling the
chromosomes through their attached
centromeres towards the two ends of the cell

Anaphase I
The kinetochore microtubules
shorten and the chromosomes
split.

Telophase I
The first meiotic division effectively ends
when the chromosomes arrive at the
poles.
Each daughter cell now has half the
number of chromosomes but each
chromosome consists of a pair of
chromatids.
The decondensing chromosomes are
surrounded by nuclear membranes.

Meiosis II
Meiosis II is the second part of the meiotic process,
also known as equational division.
Mechanically, the process is similar to mitosis

2n 2c means two homolog (diploid) unreplicated chromosomes (two chromatids).

1n 1c one single chromosome (haploid) that is unreplicated.
2n 4c Two homolog chromosomes (diploid) consisting each of two sister chromatids, thus 4c
in total.
1n 2c one single chromosome in which DNA has been duplicated.

Gametogenesis
The process of meiosis is inextricably linked to gametogenesis
Gametogenesis is a biological process by which diploid or haploid precursor cells undergo
cell division and differentiation to form mature haploid gametes

Spermatogenesis
Stages
◦Spermatogoniognesis
◦spermatocytogenesis (mitosis)
◦spermatidogenesis (meiosis)
◦spermiogenesis

Oogenesis
Stages
◦ Oocytogenesis (mitosis)
◦ Ootidogenesis
◦ Meiosis I
◦ Meiosis II
◦ Fertilization

development of ovarian follicles

transformation of primary follicles into primary oocytes
Fertilisation is the fusion of gametes to initiate the development of a new individual
organism

Chromosome theory of heredity

1. Chromosomes contains the genetic material
2. The genes are arranged on chromosomes in linear fashion and
located in loci
3. Chromosones are relicated and passed form parent to offspring
4. Diploid eukaryotic cells contain homologous pair of chromosomes
5. Each pair of chromosomes segregate independently
6. Each parent contributes one set of chromosomes to its offspring

Sex determination
XX/XY sex chromosomes
◦ Human, Drosophila,
XX/X0 sex chromosomes
◦ Grasshopper
XY/XX sex chromosomes
◦ Birds
Ploidy – haplo and diploidy
◦ ants, bees
Temperature-dependent sex determination
◦ turtles, aligators
Other sex-determination systems
◦ sex reversal in tropical clown fish

The most important gene on the Y chromosome is the SRY

Its function is crucial in the determination of male sexual characteristics.
SRY acts as a transcription factor and works like a trigger for the formation of male
characteristics

Test questions:
The child has B blood type its mother has A blood group. Men with which blood
groups can be excluded as fathers.
4. A_0

•Pleiotrophy appears as influences of:

-One gene on multiple attributes

Extrachromosomal inheritance is associated with:

1. _Cytoplasm DNA inherited from the femalé
In culture of dragon Mlowers (Antirrhinum majus) pure lines with white
flowers and red flowers were carried out. As result of the crossing the
representative of the two lines in first generation half-white half-red?
dragon flowers were obtained. This interaction of the genes is known as:
half/ half i
21. Co-dominance

Drosophila melanogaster with 3 sets of autosomes and (1 X chromosomes

will be:
-Metamale

The breeder had two cats: a black female cat and redhead male cat. In the
P1 generation be received redhead and black males and also spotted (balf-
black half-red) female. This is an example for:
-co dominance

What is the number of chromosomes and ploidy in the human metaphase

I:
-2n4c

Determination of Human male sexual characteristics depends on the:

3. Presence of the SRY gene on the Y chromosome

A cell that has 20 chromosomes undergoes mitosis, Which of the following

is true?
1. ¿Two daughter cells will be created, ach have 20 chromosomes

Maternal effect is associated with:

3- Cytoplasm RNA and DNA inherited from the female

The appearance resulting from a given gene combination is referred to as

The:
-phenotype
-
A cell with diploid number of 24 undergoes meiosis, how many different
chromosomes (ploidy) and chromatids are in telophase I?
-12 chromosomes and 24 chromatids

During what stage of prophase I does crossing over occur?

-pachynema

What is the correct statement to describe the difference between a sex cell and a
somatic cell?
-sex cells are produced by meiosis
A farmer discovers an oddity among his sheep where some of the sheep
have abnormally large eyes and bowed legs. Crosses of these sheep show
that 2/3 of the offspring have normal phenotype and 1/3 have abnormal
phenotype. What is the best explanation for the type of inheritance that
occurs here?
-the allele is lethal in it’s dominant form

In the radish plant three shapes are observed in the root - round, long
and oval. Different crosses of radishes gave the following results:
- long x oval produces 52 long and 48 oval
- long x round produces 98 oval
- oval x round produces 51 oval and 50 round
- oval x oval produces 24 long, 53 oval, and 27 round
This interaction of the genes is known as:
-incomplete dominance

A woman who has blood type A, has a daughter whi is type O positive and a son who
is type B negative. Rh positive is simple dominant trait over Rh negative. Which of the
following is possible genotype for the mother?
-IAi

What is the chromosomal system for sex determination in grasshoppers and certain
other insects?
-females are XX and males are X0

A 0.1% frequency of recombination is observed:

-only in sex chromosone

SYR is:
-a gene present on the Y chromosome that triggers male development

What is the number of chromosomes and ploidy in the human prophase II?
-1n2c

Pleiotrophy appers as influences of:

-one gene on multiple attributes

Hereditary information for the most traits is generally located in:

-genes found on chromosomes located in nucleus

Haploid cells in the human body:

-are gametes which allow for sexual reproduction.

In cats, the gene for calico colour is both co-dominant and sex linked. If a black and
yellow cat are mated, what will be the result?
-all female offspring will be calio

A man with hemophilla (sex linked) lives a full life through modern medicine. What
phenotypes are likely in their children?
-non of the children will have the disease assuming his wife is not a carrier)

Which of the following trait is controlled by multiple alleles?

-blood type

If a man has type O blood and his wife has type AB, what blood types are possible
among their children?
- A and B

Dwarfism is a dominant allele that is also lethal in homozygous state. If two

dwarfs are married, what are the odds that their child will not be viable (able to
survive)
-¼

An epistatic allele in labrador retrievers ensures that e lab pups are yellow. Two other alleles
control coat color, where black is dominant to brown. How many yellow pups would you
expeet from a parental cross where one parent was yellow (Bbee) and the other was
heterozygous black:
-½ or one half

In mice, agouti coat color is codominant. Hairs, when viewed under a microscope are grey at
the base and white at the tip. An agouti mouse will result from a cross between a black parent
and a white parent. What will two agouti mice produce?
-half augouti offspring, ¼ white, ¼ black

Consider the following traits: Widow's peak (dominant) and Tongue twisting (recessive). If a
person is Pptt is married to a person who is ppTt, what proportion of their offspring will have a
widow's peak and can twist their tongue? -¼

A man of blood AB marries a woman of blood group O. What are the possible blood
groups of their children?
- O, A, B, AB

-
Two true breeding parents are crossed similar to Mendel’s P generation. A tall plant is
crossed with a short plant. What is the expected outcome for the F1 generation?
- All tall

If the cross from (two true breeding parents) is continued, what would be the
expected outcome in the F2 generation?
 - 3 Tall, 1 short (3 dominant, 1 recessive)

If a plant that has round seeds has a parent that has wrinkled seeds, what is it’s
genotype? Assume round is dominant.
- Rr

This principle states that alleles separate during gamete formation:

- Principle of segregation

If you crossed two heterozygous plants, how many of the offspring will also be
heterozygous?
- Half

A plant that has purple flowers is crossed with one that has white flowers. The
offspring were half white and half purple. What were the genotypes of the parents?
- Pp x pp

A dihybrid cross (AaBb x AaBb) will result in what offspring ratio?

- 9:3:3:1

Phenotype refers to an organism’s:

- Physical appearance

In each case where Mendel crossed true breeding plants as parents, the offspring
displayed only one of the two traits seen in the parents. This observation supports
which principle of genetics?
- Dominance and recessiveness

Which of the following outcomes would you expect from the following cross: tall,
round (TTRR) x short, wrinkled (ttrr):
- All offspring tall and round

Determination of human male sexual characteristics depends on:

- Presence of the SRY gene on the Y chromosome

What is the distance between the genes that determine the colour of flowers and the
inheritance of seed size in the garden pea (Pisum Savitum) In the test cross of F1
generation 430 individual with parental genotypes and 70 recombinants were
obtained?
- 14,0 cm

The breeder had two cats: a black female cat and a redhead male cat. In the F1
generation, he received black males and tortie(spotted: half black, half red) female.
This is an example for:
- Co dominance

How many unique gametes could be produced through independent assortment by an

individual with the genotype AaBbCCDdEEFfgg
 - 16

A couple has three children, all of whom have brown eyes and blond hair. Both
parents are heterozygous for brown eyes (Bb) but one is blond (rr) and the other is a
redhead (Rr). What is the probability that their next child will be a brown eyes
redhead?
- ½

Complimentary interaction of the genes is also known as

- Duplicate recessive epistasis

Extrachromosomal inheritance is associated with

- Cytoplasm DNA inherited from the female

In human sperm cell, the acrosome is formed by

- Golgi apparatus

What number of chromosomes and ploidy in the human interphase G1 stage:

- 2n2c

Human with 18 XXXY karyotype will be

- Male

A woman with A blood group married a man with B blood group. Which blood groups
may their children have?
- 0,A,B,AB

In the culture of dragon flowers (Antirrhinum majus), pure lines with white flowers and
red flowers were carried out. As a result of the crossing, the representatives of the
two lines, pink dragon flowers were obtained. This interaction of genes is known as:
- Incomplete dominance

The appearance resulting from a given gene combination is referred to as the

- Phenotype

In garden peas, height is determined by a single gene with tall being dominant to
short. If two heterozygous plants are crossed, what proportion of the tall progeny will
be homozygous dominant:
- 1/4

Mitosis is the process during which the organism produces:

- Two generally the same daughter cells

A 1:2:1 phenotypic ratio in the F1 generation of a monohybrid cross is a sign of:

- Incomplete dominance

Tallness (T) is dominant in dwarfness(t), while red ( R ) is dominant to white ( r ). The

heterozygous condition results in pink (Rr) flower colour. A dwarf, red snapdragon is
crossed with a plant homozygous for tallness and white flowers. What are the
genotype and phenotype of the F1 individuals?
- TtRr tall and red

The ABO blood group system is an example for:

- Multiple alleles

When crossing a homozygous recessive with a heterozygote, what is the chance of

getting an offspring with the homozygous recessive phenotype?
- 50%

During crossing over genes are

- Exchanged between homologous chromosomes

The child has A blood type its mother has B blood group. Men which blood groups
can be excludes as fathers:
- AB, O

If you crossed heterozygous and dominant homozygous plants, how many of the
offspring will also be heterozygous
- 1/2

Hypertrichosis, hairiness of the pinna of the ear, is inherited as a Y-linked recessive in

humans. If a man with hypertrichosis marries a normal woman, what types of children
may they have
- All the sons have hypertrichosis, but none of the daughters

The genotypes of a husband and wife are Ia Ih x Iai. Among the blood types of their
children how many different genotypes and phenotypes are possible
- 4 genotypes, 3 phenotypes

Given the parents AABBCc and AabbCc assume simple dominance and independent
assortment. What proportion of the progeny will be expected to phenotypically
resemble the first parent
- ¼
- ⅛
- ¾
- ⅜

In cattle, roan coat colour (mixed red and white hairs) occurs in the heterozygous (Rr)
offspring of red (RR) and white (rr) homozygotes. Which of the following crosses
would produce offspring in the ratio of 1 red : 2 roan : 1 white
- Roan and Roan

The phenotype of the heterozygote differs from the phenotypes of both homozygotes
is an example of
 - Incomplete dominance

Human with 47 XXY karyotype without SRY gene on the Y chromosome will be
- intersex