MDCAT Yaqeen Batch

Variation and Genetics

Instructor Name: Ma’am Marium

GREGOR JOHN MENDEL AND HIS
WORK
• Historical Context:
• Mendel's experiments were initially conducted in the 19th century.
• Rediscovery of Mendel's work in 1900 by three botanists: Karl Correns,
Erich von Tschermak, and Hugo de Vries.
• They worked independently and came to similar conclusions about
Mendel’s laws.
• Development of Biological Sciences:
• After the rediscovery, biology became more experimental and
quantitative.
• The field started integrating Mendel's laws with the broader
understanding of biological processes.
• Skepticism and Acceptance:
• Initial skepticism about Mendel's laws of segregation and independent
assortment.
• Over time, these laws gained acceptance as more experimental and
physical evidence emerged.
• Genetic Basis of Heredity:
• Discovery that Mendel's hereditary factors, genes, are located on
chromosomes.
• This established a physical basis for genetics, linking it to chromosomal
behavior.
THE WORK OF GREGOR MENDEL
• Experimental Material:
• Used Pisum sativum (garden pea) because of
its favorable characteristics:
• Easy to cultivate.
• Self-pollinating, allowing controlled cross-
pollination.
• Large flowers facilitate artificial breeding.
• Clear contrasting characters (e.g., height, seed
surface, seed color).
• Produced fertile hybrids, simplifying continued
experiments.
THE WORK OF GREGOR MENDEL
• Method of Study:
• Initial Approach: Planted peas with different characteristics
to study the inheritance of these traits in the next
generation.
• Experiment Details: Focused on contrasting characters like
green versus yellow seed color and wrinkled versus smooth
seed coat.
• Documentation: Maintained detailed records of each cross
and the resulting offspring counts.
• Repetition and Verification: Repeated experiments with
many strains of peas, verifying findings through consistent
results.
• Discovery of Mendelian Laws:
• Law of Segregation: During the formation of gametes, the alleles
for a trait separate from each other. Each gamete carries only one
allele for each trait. This principle explains the re-emergence of
recessive traits in the F2 generation.
• Law of Independent Assortment: Genes for different traits are
sorted separately from one another so that the inheritance of one
trait is not dependent on the inheritance of another. This principle
applies to genes located on different chromosomes or far apart on
the same chromosome.
• Recessive Traits: Identified traits that were masked in the first
generation but could appear in subsequent generations if both
parents carried the recessive allele.
MENDEL’S PRINCIPLES OF
INHERITANCE
Mendel formulated several key principles from his
experiments:
• Principle of Dominance: In a heterozygote, one trait
will conceal the presence of another trait for the
same characteristic. For example, yellow seed color
(dominant) will hide green seed color (recessive).
• Principle of Segregation: During the formation of
gametes, the alleles for a trait separate from each
other. Each gamete carries only one allele for each
trait. This principle explains the re-emergence of
recessive traits in the F2 generation.
• Principle of Independent Assortment (though
Mendel primarily demonstrated this with two
traits): Genes for different traits are sorted
separately from one another so that the inheritance
of one trait is not dependent on the inheritance of
another. This principle applies to genes located on
different chromosomes or far apart on the same
chromosome.
The region of the chromosome or, more
specifically, a length of the DNA molecule, which
has a particular function is called _______.
a) Locus- specific position or location of a gene or allele on a
chromosome

b) Kinetochore- a structure associated with chromosomes

during cell division, specifically during mitosis and meiosis

c) Gene
d) Allele- a variant form of a gene e.g. for eye color may have
different alleles for blue, brown, or green eyes.
A heterozygous individual for a trait is crossed with a
homozygous recessive individual. What is the
purpose of this cross?
a) Determine the genotype of the heterozygous
individual
b) Produce offspring with a different phenotype
c) Confirm the dominance of the homozygous
recessive individual
d) Demonstrate codominance
Mendelian law of independent assortment applies to
a) Diploid organisms
b) Haploid organisms
c) Universal
d) Both A and B
The types of mode of inheritance of an unknown trait in
the pedigree
a) Autosomal recessive
b) Autosomal dominant
c) X-linked recessive
d) Y linked inheritance
e) X-linked dominant
Crossing over takes place during _____ of meiosis.
a) Metaphase 1
b) Prophase 1
c) Telophase 1
d) Anaphase 1
Prophase I:
• Homologous chromosomes pair up in a process called
synapsis.
• Crossing over occurs, leading to the exchange of
genetic material between homologous chromosomes.
• The nuclear envelope breaks down, and spindle fibers
begin to form.
Metaphase I:
• Homologous chromosome pairs align at the metaphase
plate (equatorial plane) of the cell.
• Microtubules from the spindle fibers attach to the
centromeres of homologous chromosomes.
Anaphase I:
• Homologous chromosomes are pulled apart and move
to opposite poles of the cell.
• The separation is random, leading to genetic variation
in the resulting gametes.
Telophase I:
• Chromosomes reach the poles and decondense.
• A nuclear envelope may reform around each set of
chromosomes.
• The cell undergoes cytokinesis, resulting in two haploid
daughter cells.
TEST CROSS EXPLAINED
• Purpose: A test cross involves the mating of an
individual exhibiting a dominant phenotype with
one that is homozygous recessive for the trait in
question. This is done to determine whether the
dominant phenotype individual is homozygous
dominant (TT) or heterozygous dominant (Tt).
• Scenarios Demonstrated:
• Homozygous Dominant Parent (TT) Crossed with
Homozygous Recessive Parent (tt):
• Parent Genotypes:
• Dominant: TT
• Recessive: tt
• Gamete Formation:
• Dominant produces gametes with T
• Recessive produces gametes with t
• Offspring Genotypes:
• All Tt (heterozygous dominant)
• Phenotypic Result:
• 100% Tall (since T is dominant over t)
TEST CROSS EXPLAINED
• Heterozygous Dominant Parent (Tt)
Crossed with Homozygous Recessive
Parent (tt):
• Parent Genotypes:
• Dominant: Tt
• Recessive: tt
• Gamete Formation:
• Dominant produces gametes with T and t
• Recessive produces gametes with t
• Offspring Genotypes:
• 50% Tt (Tall), 50% tt (Dwarf)
• Phenotypic Result:
• 50% Tall, 50% Dwarf
 INCOMPLETE DOMINANCE
• Definition: Incomplete dominance is a
phenomenon where neither allele is completely
dominant over the other. This results in a
phenotype that is a blend of the two parent
phenotypes in heterozygous individuals.
• Key Concepts
• Phenotypic Outcome: Unlike complete dominance
where a dominant allele completely masks the
effect of a recessive allele, in incomplete
dominance, the heterozygote displays a mixed or
intermediate phenotype.
• Ratios: The F2 generation typically follows a
phenotypic ratio of 1:2:1 for the traits when
incomplete dominance is involved, as seen in the
snapdragon flowers.
• Symbols Used: CR is used for the allele for red
flowers, and CW for white flowers, with the
resultant pink flowers being heterozygous (CR
CW).
INCOMPLETE DOMINANCE
• Example with Snapdragon Flowers
• Parental Generation (P):
• One parent with red flowers (genotype CR CR)
• One parent with white flowers (genotype CW CW)
• F1 Generation:
• Resulting from the cross of CR CR and CW CW
• All offspring are pink (genotype CR CW),
demonstrating incomplete dominance where the
red and white alleles blend to produce pink.
• F2 Generation:
• Resulting from the self-pollination of F1 generation
(CR CW x CR CW)
• Produces offspring with a phenotypic ratio of 1 red
: 2 pink : 1 white
• Genotypic details:
• Red (CR CR)
• Pink (CR CW)
• White (CW CW)
 CODOMINANCE
• Definition: Codominance is a form of inheritance
where both alleles of a gene in a heterozygous
individual fully express themselves, with neither allele
being dominant or recessive. This results in offspring
that exhibit both phenotypes simultaneously.
• Key Concepts
• Phenotypic Outcome: In codominance, the
phenotypes of both parents are visibly expressed in
the offspring. For example, roan cattle have both red
and white hairs rather than pink or uniformly blended
fur.
• Genotypic Explanation: The heterozygous (RW) cattle
display traits from both homozygous parents (RR and
WW) equally.
• Illustration and Symbols:
• The diagram shows crosses with genotypes leading to
phenotypes in the offspring.
• Symbols used are RR for red cattle and WW for white
cattle, with RW indicating the roan phenotype resulting
from codominance.
 CODOMINANCE
• Example with Cattle
• Parental Generation (P):
• One parent with red fur (genotype RR)
• One parent with white fur (genotype WW)
• F1 Generation:
• Resulting from the cross of RR (red) and WW
(white)
• All offspring are roan (genotype RW), showing
codominance. Roan cattle display a mixture of
red and white hairs, not a blend of colors but
distinct colors present together.
 WHY DROSOPHILA?
• Versatility and Maintenance: Drosophila melanogaster is an ideal
organism for genetic studies due to its ability to thrive in simple
environments, like glass jars, and its dietary flexibility, feeding on
yeast from mashed bananas and other fruits.
• Sexual Dimorphism: Drosophila exhibits clear sexual dimorphism,
which simplifies sex identification for genetic experiments. Males
are smaller with a black rounded abdomen, while females have a
pointed abdomen and are larger.
• Rapid Lifecycle: The fruit fly has a short generation time of
approximately two weeks, allowing for the observation of
multiple generations over a short period, which is advantageous
for studying inheritance patterns.
• Genetic Suitability: The fruit fly is genetically tractable, having
only eight chromosomes, which include large, easily observable
polytene chromosomes in their salivary gland cells, ideal for
genetic mapping and studies.
• Genomic Insights: The entire genome of Drosophila has been
sequenced, providing a comprehensive resource that enhances its
utility in genetic research and contributes to broader genomic
studies including the Human Genome Project.
 ….. WHITE EYED……
• Discovery of a Mutant: Calvin Bridges, a coworker of
Morgan, discovered a male fly with white eyes, a
mutation from the normal red-eyed wild type.
• Initial Cross (P1 Generation): Morgan crossed the
mutant white-eyed male (Xw Y) with a normal red-
eyed female (Xw+ Xw+). All offspring (1237) from this
cross exhibited red eyes, suggesting that the red eye
trait is dominant.
• F1 Cross Results: When F1 generation flies were
allowed to interbreed, they produced F2 offspring
consisting of 2459 red-eyed females, 1011 red-eyed
males, and 782 white-eyed males.
• Non-Mendelian Ratio Observed: The observed ratio
of red-eyed to white-eyed flies (3470:782) did not fit
the expected Mendelian 3:1 ratio, indicating an
anomaly in inheritance patterns.
• Sex-Linked Inheritance: All white-eyed individuals in
the F2 generation were males, suggesting a link
between the eye color trait and the sex of the
offspring.
 FINDINGS
• Morgan’s Hypothesis:
• Gene Location: The gene for eye color resides on the X
chromosome.
• Allelic Distribution: The alleles for eye color are present
only on the X chromosome, with no corresponding allele
on the Y chromosome.
• Genetic Implications for Males: Since males are
hemizygous, possessing only one X chromosome,
even a single recessive allele (w) on the X
chromosome expresses the white-eyed trait due to
the absence of a corresponding allele on the Y
chromosome.
• Genetic Implications for Females: Females, having
two X chromosomes, can be either homozygous or
heterozygous for the eye color trait.
• Genotypic Symbols: The symbol “w” is used to
represent the recessive allele for white eyes, while
“w+” represents the dominant wild type allele for
red eyes.
 HEMOPHILIA
• Genetic Basis:
• Hemophilia is a genetic disorder where blood fails to clot properly.
• It involves defects in blood clotting factors, leading to prolonged
bleeding.
• Types of Hemophilia:
• Hemophilia A: Most common (80% of cases), caused by a defect in
factor VIII.
• Hemophilia B: Second most common (20% of cases), caused by a
defect in factor IX.
• Hemophilia C: Rare (<1% of cases), caused by a reduction in factor XI.
• Inheritance Patterns:
• Hemophilia A and B: X-linked recessive traits.
• Predominantly affects males.
• Females are generally carriers and are affected only if they inherit two
recessive alleles.
• Hemophilia C: Autosomal recessive trait.
• Affects both males and females equally.
• Risk of Inheritance:
• Males are more frequently affected by Hemophilia A and B because
they have only one X chromosome.
• A male with one affected X chromosome will exhibit the disease.
• Females must receive the recessive allele from both parents to be
affected by Hemophilia A or B.
• Origin of the Phrase: "Ontogeny recapitulates phylogeny"
was proposed by 19th-century biologist Ernst Haeckel.
• Recapitulation Theory: This theory suggests that the
development of an individual organism (ontogeny) mirrors
the evolutionary development of its species (phylogeny).
• Embryological Examples: Haeckel pointed to embryonic
stages in vertebrates that seemed to reflect historical
evolutionary stages, such as pharyngeal pouches in human
embryos which resemble "gill slits" in fish.
• Modern View: Modern biology largely discredits Haeckel's
recapitulation theory. While there are superficial
embryonic similarities across species, they do not
necessarily retrace evolutionary history.
• Evolutionary Developmental Biology (Evo-Devo): This
modern field recognizes that while embryological
development reflects aspects of an organism's evolutionary
history, it also includes unique adaptations and innovations
not accounted for in Haeckel's theory.
• This genotype indicates that the person has
one allele for type A blood and one allele for
type B blood, resulting in blood type AB. The
ℎℎhh genotype means that the person has the
Bombay phenotype, which overrides the
expression of the ABO blood group antigens.
• Therefore, despite the 𝐼𝐴IA and 𝐼𝐵IB alleles,
the Bombay phenotype (ℎℎhh) prevents these
antigens from being expressed. As a result, the
person's blood type will test as O, since the A
and B antigens are not present on the red
blood cells.
• In the context of the question, the genotype
includes "dd" which typically refers to a
homozygous recessive condition for the Rh
factor, indicating that the individual does not
have the Rh antigen on their red blood cells.
This results in a negative Rh status.