UNIT 5 & UNIT 6: CYTOGENETICS

Heredity – is the passing of traits from parent to
offspring.
How are traits passed on from parents to
offspring?
• A TRAIT is simply a characteristic that
one possesses
INHERITED TRAIT
• Received from your biological parents.
• HEREDITY is the passing of traits from
parent to offspring.
ACQUIRED TRAIT
• Developed during life.
• A TRAIT is simply a characteristic that
one possesses
MENDEL’S CROSSES
Mendel’s Crosses was published by an Austrian
botanist named Gregor Johann Mendel. He
studied the peas he grew in his garden and he
carefully pollinated the plants, saved seeds to
plant separately, and analyzed the succeeding
generations.
• Is a diagram that is used to predict the
possible genotypes and phenotypes of
offspring resulting from a cross between
two individuals.
• Developed by Reginald Punnett the
British geneticist (20th Century).
Genotype and Phenotype
• Genotype refers to an organism's
genetic makeup, including all of its
genes, alleles, and variations that are
inherited from its parents.
• Phenotype refers to the actual
expression of that potential in an
individual's observable traits
PEDIGREE DIAGRAM
Used to analyze the pattern of inheritance of a
particular trait throughout a family. Pedigrees
show the presence or absence of a trait as it
relate to the relation among parents, offspring,
and siblings.

MENDELIAN LAWS OF INHERITANCE

1. LAW OF PAIRED FACTORS - Characters are

controlled by factors which are in pair.

2. LAW OF DOMINANCE - The dominant gene is

expressed while the recessive is present but its
expression is hidden.

3. LAW OF SEGREGATION - Individuals possess

two alleles and separate during gamete
formation.

4. LAW OF INDEPENDENT ASSORTMENT - The

inheritance of one pair of genes is independent
to the other pairs.

What is Punnet Square?

 UNIT 5 & UNIT 6: CYTOGENETICS

Genetic Variation - Refers to the differences of How can gene variants affect health and
gene between individual Members of the development?
population.
To function correctly, each cell depends on
• Mutation thousands of proteins to do their jobs in the right
• Genetic Drift places at the right times. Sometimes, gene
• Non-random Mating variants prevent one or more proteins from
• Natural Selection working properly.
• Gene Flow Do all gene variants affect health and
• Genetic Recombination development?
Genetic Disorder No, only a small percentage of variants cause
An illness cause by one or more abnormalities in genetic disorders—most have no impact on
the genome. health or development.

• Single Gene Disorder GENETIC DISORDERS

• Chromosomal Disorder Recessive Autosomal Inheritance
• Multifactorial Genetic Disorder
• Cysticfibrosis
GENETIC VARIATION • Sicklecell disease
Sources of Genetic Variation: • Tay-Sachs disease.

• MUTATIONS Autosomal Dominant

• GENE FLOW/MIGRATION • Familia lhypercholesterolemia
• CROSSING OVER AMONG CHROMATIDS • Huntington's disease.
OF
• HOMOLOGOUS CHROMOSOMES
• MATING PATTERN

Types of Genetic Variation

X-linked Recessive

• Duchenne muscular dystrophy

• Hemophilia

Chromosomal Disorders:

• Klinefelter syndrome
• FragileX syndrome
• Down syndrome (Trisomy 21)
• Triple-X syndrome
 UNIT 5 & UNIT 6: CYTOGENETICS

• Turner syndrome
• Trisonomy 13 & 18
• Tourette syndrome

Types of Multifactorial Traits and Disorders:

• Birth defects such as neural tube defects

and cleft palate.
• Cancers of the breast, ovaries, bowel,
prostate, and skin.
• High blood pressure and high
cholesterol.
• Diabetes
• Alzheimer disease
• Schizophrenia
• Bipolar disorder
• Arthritis
• Osteoporosis
• Skin conditions such as psoriasis, moles,
and eczema
• Asthma and allergies
• Multiple sclerosis and other
autoimmune disorder
 UNIT 5 & UNIT 6: CYTOGENETICS

1. The passing of traits from offspring to parents 10. It is a set of genes in DNA responsible for
is known as? unique traits or characteristics

ANSWER: HEREDITY ANSWER: GENOTYPE

2. It is a trait that you received from your 11.A chart that diagrams the inheritance of a
biological parents. trait or health condition through generations of
a family.
ANSWER: INHERITED TRAIT
ANSWER: PEDIGREE CHART
3. He is the one who discovered the basic
principles of inheritance and also considered as 12. Female is represented by what symbol?
the Father of Genetics.
ANSWER: CIRCLE
ANSWER: GREGOR JOHANN MENDEL
13. Relating to a chromosome that is not a sex
4. It is also known as phenotypes, may include chromosome.
features such as eye color, hair color, immunity
ANSWER: AUTOSOMAL
or susceptibility to certain diseases and facial
features such as dimples and freckles. 14. It refers to the genetic make up of an
organism or its particular traits.
ANSWER: TRAITS
ANSWER: GENOTYPE
5. It is a law of inheritance in which characters
are controlled by factors in pairs? 15. Refers to the physical characteristics that
relates to those particular traits.
ANSWER: LAW OF PAIRED FACTORS
ANSWER: PHENOTYPE
6. It is a Mendelian Law in which the dominant
gene is expressed and the recessive gene is
hidden?

ANSWER: LAW OF DOMINANCE

7. It is an inheritance law which clarifies that

individuals possess two alleles and one from
each parent?

ANSWER: LAW OF SEGREGATION

8. A Mendelian Law of inheritance which

explains that a pair of genes is independent to
the other pairs?

ANSWER: LAW OF INDEPENDENT ASSORTMENT

9. When was the Punnett square invented?

ANSWER: 1905
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1. It refers to the differences in genes between ANSWER: C

individual members of the population.
6. It is the type of genetic variation that is used
a. Genetic material for forensic investigations.
b. Genetic variation
a. Single nucleotide changes
c. Genetic disorder
b. Tandem repeats
d. Genetic flow
c. Short indels
ANSWER: B d. All of the above

2. Which of the following is the source of genetic ANSWER: B

variation?
7. Do all gene variants affect health and
a. Mating patterns development?
b. Gene flow
a. Yes
c. Mutations
b. No
d. All of the above
c. Maybe
ANSWER: D d. Probably

3. It refers to any movement of genetic material ANSWER: B

from one population to another and is an
8. What type of genetic variation is this:
important source of genetic variation.
Reference DNA sequence: CCG TAG CAA GGA ---
a. Gene flow > CCG TAA CAA GGA
b. Mutation
a. Single nucleotide changes
c. Crossing over among chromatids
b. Tandem repeats
d. All of the above
c. Short indels
ANSWER: A d. All of the above

4. Which type of genetic variation is the most ANSWER: A

abundant?
9. A health problem caused by one or more
a. Single nucleotide changes abnormalities in the genome. It can be caused by
b. Tandem repeats a mutation in a single gene or multiple genes or
c. Short indel by a chromosomal abnormality.
d. All of the above
a. Recessive Inheritance
ANSWER: A b. Autosomal Inheritance
c. Genetic disorder
5. What type of genetic variation is this:
d. none of the above
Reference DNA sequence: CCG TAG CAA GGA ---
> CCG (-) GGA ANSWER: C

a. Single nucleotide deletion

b. Single nucleotide insertion
c. Short indel deletion
d. Short indel insertion
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10. A common genetic condition where a male is 15. All are autosomal recessive inheritance
born with an extra X chromosome. diseases, except one.

a. Down syndrome a. Alzheimer disease

b. Turner syndrome b. Tay sachs disease
c. Klinefelter syndrome c. Cystic fibrosis

ANSWER: C ANSWER: A

11. a genetic disorder caused by changes in a

gene called Fragile X Messenger
Ribonucleoprotein 1 (FMR1).

a. Down syndrome
b. Fragile x syndrome
c. Klinefelter syndrome

ANSWER: B

12. A condition in which a person has an extra

chromosome.

a. Down syndrome
b. Fragile x syndrome
c. Turner syndrome

ANSWER: A

13. A genetic condition that occurs when the

child inherits one copy of a mutated (changed)
gene from each parent.

a. Turner syndrome
b. Down syndrome
c. Autosomal recessive inheritance

ANSWER: C

14. Refers to genetic conditions associated with

mutations in genes on the X chromosome.

a. Sickle cell disease

b. Cystic fibrosis
c. x linked inheritance

ANSWER: A