MDCAT BIOLOGY

Chapter Name: Variation and

Genetics

Instructor Name: Hamza Ramzan

Experience : 8 Years
Key Terms

• DNA
• Gene
• Locus
• Allele
• Dominant
• Recessive
• Genotype
• Phenotype
Genetics and Mendel’s Work

• Genetics: The study of heredity and

variation in organisms.
• Historical Context:
• In the mid-19th century, scientific knowledge of
heredity was limited.
• Gregor Mendel’s work with pea plants laid the
foundation for modern genetics.
Pea Plants
• Why Pea Plants?
• Clear, contrasting traits (e.g., seed shape, flower
color).
• Short generation time and ease of cultivation.
• Methodology:
• Controlled cross-pollination.
• Tracking of trait inheritance over several
generations.
• Experimental Design:
• Monohybrid crosses
• Dihybrid crosses
Monohybrid Cross
• Example: Seed shape (round vs. wrinkled).
• Key Observations:
• F1 Generation: All offspring exhibit the
dominant trait.
• F2 Generation: A 3:1 ratio (dominant :
recessive) appears.
• Conclusion:
• Each organism carries two alleles for each trait.
• One allele is dominant, and the other is
recessive.
Dihybrid Cross
• Example: Seed shape and seed color.
• Observation:
• F1 Generation: All display dominant traits for
both characteristics.
• F2 Generation: Phenotypic ratio typically
approximates 9:3:3:1.
• Significance:
• Demonstrates how multiple traits are inherited
simultaneously.
The Law of Independent
Assortment
• Definition:
• Genes for different traits are distributed
independently of one another during gamete
formation.
Test Cross
According to Mendel Law of Segregation, the
one individual out of four in F2 generation had
phenotype that failed to express in _____
generation. (2023)

A. F1
B. F2
C. F3
D. P1
Homozygous means: (2019)

A. alleles in an organism
B. two different alleles of a gene.
C. having two identical genes
D. having two identical alleles of a gene.
Position of a gene within a DNA molecule is:
(2014, 2018)

A. Locus
B. Origin
C. Amplicon
D. Filial
Test cross is made to check the genotype of a
trait. Which of the following crosses is a test
cross? (2023)

A. Unknown x At
B. Unknown x tt
C. Unknown x AB
D. Unknown x TT
Which of the following best explains why
Mendel’s dihybrid cross resulted in a 9:3:3:1
ratio?

A) Genes were codominant

B) Genes were located on the same
chromosome
C) Genes assorted independently
D) Traits were influenced by the environment
Which of the following is true about a
monohybrid cross between two heterozygous
individuals?

A) 100% offspring express recessive phenotype

B) 25% offspring are heterozygous
C) Genotypic ratio is 1:2:1
D) Phenotypic ratio is 1:2:1
Which statement contradicts the law of
segregation?

A) Alleles separate independently during

gamete formation
B) An organism carries two alleles per gene
C) Gametes carry only one allele per gene
D) Both alleles go into the same gamete
In a test cross, 50% dominant and 50%
recessive phenotypes appear. The unknown
genotype is:

A) Homozygous dominant
B) Heterozygous
C) Homozygous recessive
D) Codominant
The term “allele” refers to:

A) A gene on the Y chromosome

B) Alternate forms of the same gene
C) A mutated gene
D) Homologous chromosomes
If a trait is dominant, it will appear in the
phenotype of an individual who is:

A) Homozygous only
B) Heterozygous only
C) Homozygous or heterozygous
D) Recessive for that trait
Two traits are said to assort independently when:

A) They are controlled by the same gene

B) They are controlled by alleles on different
chromosomes
C) They are controlled by multiple alleles
D) They are linked together on the same
chromosome
Gene Linkage
• Genes and Chromosomes
• Organisms have thousands of genes, but a
limited number of chromosomes.
• Humans have ~30,000 genes spread across 46
chromosomes.
• Linkage Groups
• Genes on the same chromosome are physically
linked (forming a “linkage group”).
• The number of linkage groups equals the
number of homologous chromosome pairs (23
in humans).
Gene Linkage
• Examples
• X Chromosome (23rd Pair): Genes for color
blindness, hemophilia, gout.
• Chromosome 11: Genes for sickle cell anemia,
leukemia, albinism.
• Inheritance Implications
• Linked genes close together on a chromosome
are usually inherited together.
• They do not follow Mendel’s law of
independent assortment.
Sex Linkage in Drosophila
• Historical Context (1910):
T. H. Morgan used Drosophila (fruit flies) to
provide the first solid evidence for the
chromosomal theory of inheritance.
• Initial Observation:
• Wild type (w+) = red eyes; Mutant (w) = white
eyes.
• Crossed a white-eyed male (w) with a red-eyed
female (w+).
Sex Linkage in Drosophila
• Key Results:
• F1 Generation: All red-eyed offspring → red
eye (w+) is dominant.
• F2 Generation: 3,470 red-eyed : 782 white-
eyed; all white-eyed were male → did not
follow Mendel’s typical 3:1 ratio.
• Suggested eye color inheritance was linked to
sex.
Morgan’s Hypothesis &
Confirmation
• Hypothesis:
• The eye color gene is located on the X
chromosome.
• The Y chromosome lacks the corresponding
allele.
• Males (XY) are hemizygous: one recessive
allele (w) causes white eyes.
• Females (XX) can be homozygous or
heterozygous for the trait.
Morgan’s Hypothesis &
Confirmation
• Test Cross:
• Red-eyed heterozygous female (w⁺/w) × white-
eyed male (w/Y).
• Produced both white-eyed and red-eyed males
and females, confirming the X-linked
hypothesis.
• Conclusion:
• Sex linkage explains why white-eyed males
predominated.
• White-eyed flies had lower viability, further
influencing observed ratios.
Reciprocal Cross
• Morgan crossed a white-eyed female with a
red-eyed male.
• Result:
• All female offspring had red eyes.
• All male offspring had white eyes.
• Conclusion:
• This reciprocal cross confirmed that the eye
color gene is X-linked.
• A gene present on the X chromosome (with no
corresponding allele on the Y) is referred to as
an X-linked gene or sex-linked trait.
Sex Linkage in Humans
• X-Linked Traits
• Recessive: Hemophilia, color blindness
• Dominant: Hypophosphatemic (vitamin D–
resistant) rickets
• General Patterns
• X-linked recessive traits typically affect males
more often (they only need one copy of the
mutant allele).
• Females must have two copies of the recessive
allele to express the trait.
Hemophilia
• Definition: A rare X-linked recessive disorder
affecting blood clotting.
• Types:
• Hemophilia A: Factor VIII deficiency (~80% of
cases)
• Hemophilia B: Factor IX deficiency (~20% of cases)
• Hemophilia C: Factor XI deficiency (autosomal
recessive, <1%)
• Clinical Note:
• Minor injuries can lead to excessive bleeding.
• Hemophilia A & B are inherited via X-linked
recessive pattern, while Hemophilia C is
autosomal.
Inheritance Patterns
• Why Males Are More Affected:
• Males (XY) need only one recessive allele (on X)
to show the disease.
• Females (XX) must be homozygous recessive to
be affected.
• Zigzag Transmission:
• Passed from an affected male → carrier
daughter → affected grandson.
• No Father-to-Son Transmission:
• Sons inherit the Y chromosome from their
father, not the X.
Exchange of segments between homologous
chromosomes is called: (2012)

A. Segregation
B. Independent assortment
C. Crossing over
D. Mutation
The gene for ABO-blood group systems in
humans is represented by symbol: (2012)

A. X
B. I
C. Y
D. O
ABO blood system is an example of: (2015)

A. Polygenes
B. Multiple genes
C. Multiple Alleles
D. Multiple Mutation
Human skin colour is a good example of?
(2015)

A. Sex-linked inheritance
B. Polygenic inheritance
C. x-linked inheritance
D. y-linked inheritance
x-linked recessive trait is: (2015, 2016)

A. Hypophosphatemia
B. Vitamin-D resistant rickets
C. Haemophilia
D. Diabetes Mellitus
The condition in which the heterozygote has a
phenotype intermediate between contrasting
homozygous parents is called as: (2017)

A. Dominance
B. Incomplete dominance
C. Co-dominance
D. Over- dominance
When two or more Alleles do not show
complete dominance or both the Alleles are
expressing independently in heterozygotic
condition. Such a condition is called ______.
(2018)

A. Complete dominance
B. Over dominance
C. Co-dominance
D. Incomplete dominance
Which one of the following is Multiple allelic
character? (2018)

A. Colour of flower in pea plant

B. Blood group of the human being
C. Shape of seed in pea plant
D. Length of stem in pea plant
Which one of the following is X Linked Dominant
disorder? (2019)

A. Haemophilia
B. Color blindness
C. Hypophosphatemic rickets
D. Hypertrichosis