Module 3: Genetics
Gene vs DNA
Chromosome Structure
Chromosomes are thread-like structures
found in the nucleus of the cell
It is made up of DNA, histones, and
other non-histone proteins
Histone proteins are basic proteins
They can bind with DNA
Fundamentals of a Trait
Somatic cell division- Mitosis-Stages
Gamete Formation- Meiosis-Stages
Mendel’s laws: Concept of segregation
The law states that during the formation of a gamete, each
gene separates from the other such that each gamete
carries one allele for each gene
Thus, according to the law of segregation, the allocation
of the gene copies is random
Mono-Hybrid Cross
Let's use the example of flower colour in pea plants, where purple flowers (P) are dominant, and white flowers (p) are
recessive.
Parents:
Parent 1: PP (Purple flowers, homozygous dominant)
Parent 2: pp (White flowers, homozygous recessive)
Gamete Formation: | P | p |
Offspring (F1 generation):
All the offspring (F1 generation) will be heterozygous (Pp) and have purple flowers. This is because the dominant
allele (P) masks the expression of the recessive allele (p), resulting in the dominant phenotype (purple flowers).
Offspring (F2 generation):
When the F1 generation plants (Pp) are crossed among themselves, the F2 generation will have a phenotypic ratio
of 3:1 for purple to white flowers. The genotypic ratio will be 1:2:1 for PP:Pp:Pp:pp, following the Law of
Segregation.
Concept of independent assortment
•The law of
independent
assortment; unlinked
or distantly linked
segregating genes pairs
behave independently
•The Law of
Independent
Assortment states that
alleles for separate
traits are passed
independently of one
another
Di-Hybrid Cross
Parents:
Parent 1: YYRR (Yellow round seeds, homozygous dominant for both traits)
Parent 2: yyrr (Green wrinkled seeds, homozygous recessive for both traits)
Gamete Formation: | YR | yr |
Offspring (F1 generation):
All the offspring (F1 generation) will be heterozygous for both traits (YyRr) and exhibit yellow round seeds. This is
because both dominant alleles (Y and R) mask the expression of their respective recessive alleles (y and r).
Gamete Formation: | YR | Yr | YR | yR |yr |
Offspring (F2 generation):
When the F1 generation plants (YyRr) are crossed among themselves, the F2 generation will have a phenotypic ratio of
9:3:3:1 for yellow round seeds:yellow wrinkled seeds:green round seeds:green wrinkled seeds. This ratio follows the Law
of Independent Assortment, as the inheritance of one trait is independent of the inheritance of another
Mendel’s laws: Concept of Dominance
Mendel’s Law of Dominance states that ‘In crossing between homozygous organisms for contrasting characters of a pair, only
one character of the pair appears in the first generation.’
Parents:
Parent 1: PP (Purple flowers, homozygous dominant)
Parent 2: pp (White flowers, homozygous recessive)
Gamete Formation: | P | p |
F1 will have only DOMINANT characteristics
Offspring (F1 generation):
All the offspring (F1 generation) will be heterozygous (Pp) and have purple flowers. This is because the dominant
allele (P) masks the expression of the recessive allele (p), resulting in the dominant phenotype (purple flowers).
1. Design an experiment to determine the inheritance pattern of a specific trait in pea plants, such as flower colour or
seed shape.
[Hints: Consider selecting parent plants with known genotypes for the trait and carefully control the crosses. Observe
and record the phenotypes of the offspring (F1 and F2 generations) to draw conclusions about the mode of
inheritance.]
2. In peas, seeds may be round (R) or wrinkled (r). What proportion of the offspring in the following crosses would be
expected to be wrinkled? [Evaluate, BL 5]
a. RR x rr b. Rr x Rr c. Rr x rr
[Hint: Determine the possible genotypes of the offspring by creating a Punnett square.]
Codominance
Codominance is a type of inheritance in which the expression of the two alleles (dominant and recessive) of the same
gene results in the appearance of both traits in an individual instead of only one being dominant.
In the following cases of disputed paternity, determine the probable parent.
a. Mother is type B, child is type O. Father #1 is A; father #2 is AB.
b. Mother is type B, child is type AB. Father #1 is A; father #2 is B.
[Hint: a. Blood type O can only be inherited from parents who are either type O or carrying an O allele. Consider the
blood types and their possible combinations for each potential father.
b. Determine the blood type alleles contributed by each potential father and match them with the child's blood type AB,
considering the mother's blood type B.]
In humans, the ABO blood groups are controlled by three alleles (only two of which occur in any one individual): the alleles
for A and B type blood are co-dominant toward each other, and both are dominant to the allele for O type blood.
a. If a person with type AB blood marries someone with type O blood, what are the possible phenotypes of their offspring?
In the following, determine the genotypes of the parents:
b. One parent has type A and the other has type B, but all four blood groups are represented in the children.
c. One parent has type AB and the other has type B, but of the children 1/4 have type A, 1/4 have type AB, and 1/2 have type B
[Hint: for part (a), consider the possible alleles each parent can pass on to their offspring: A, B, or O. Use Punnett squares to
determine the potential phenotypes.
b. For part (b), determine the possible genotypes of each parent that can result in all four blood types (A, B, AB, O) in their offspring.
c. For part (c), set up Punnett squares for the given parental genotypes (AB x B) to find the expected ratios of blood types in the
offspring.]
Incomplete Dominance
Incomplete dominance, also called partial dominance, semi-dominance, or intermediate inheritance, involves the formation of
third phenotypic traits due to the combination of parents’ alleles.
Gene Interaction: Epistasis
• Epistasis is a specific type of
gene interaction where one gene
masks or modifies the
expression of another gene
• The gene that does the masking
or modifying is called the
"epistatic gene," while the gene
being influenced is called the
"hypostatic gene"
Problem
In a study of genetic interactions in plants, researchers investigated the flower colour of a specific species. They observed that
when two different genes, A and B, are involved, the presence of a dominant allele of gene A (AA or Aa) masks the
expression of gene B, resulting in white flowers. However, in the presence of two recessive alleles of gene A (aa), the
expression of gene B determines the flower colour, resulting in purple flowers.
Evaluate the findings of this study and explain the concept of epistasis underlying the observed flower colour phenotypes.
Discuss how the interaction between the two genes leads to the expression of different flower colours and the significance of
epistasis in genetic diversity and inheritance.
The Hardy Weinberg principle
The Hardy-Weinberg principle states that a population’s allele and genotype frequencies will remain constant in the absence of
evolutionary mechanisms. Ultimately, the Hardy-Weinberg principle models a population without evolution under the following
conditions:
[Link] mutations
[Link] immigration/emigration
[Link] natural selection
[Link] sexual selection
5.a large population
According to the Hardy-Weinberg principle, the variable p often represents the frequency of a particular allele, usually a dominant
one. For example, assume that p represents the frequency of the dominant allele, Y, for yellow pea pods. The variable q represents
the frequency of the recessive allele, y, for green pea pods. If p and q are the only two possible alleles for this characteristic, then the
sum of the frequencies must add up to 1, or 100 percent. We can also write this as p + q = 1.
In a population of rabbits, the gene for coat colour has two alleles: A (dominant allele for black coat) and a (recessive allele for
white coat). The frequency of the dominant allele A is 0.7, and the frequency of the recessive allele a is 0.3. Calculate the
percentage of rabbits that are homozygous dominant (AA), homozygous recessive (aa) rabbits and Heterozygous (Aa) rabbits?
Given:
Frequency of dominant allele A (p) = 0.7
Frequency of recessive allele a (q) = 0.3 p + q = 0.7 + 0.3 = 1
Genotype frequencies:
AA (homozygous dominant) = p²
Aa (heterozygous) = 2pq
aa (homozygous recessive) = q²
Calculations:
AA = (0.7)² = 0.49 → 49%
Aa = 2 × 0.7 × 0.3 = 0.42 → 42%
aa = (0.3)² = 0.09 → 9%
Answer:
•Homozygous dominant (AA): 49%
•Heterozygous (Aa): 42%
•Homozygous recessive (aa): 9%
Concept of Complementation
Complementation is a concept in genetics that involves the interaction of two different mutations in two separate
genes to produce a functional phenotype.
In other words, if two individuals have mutations in different genes that result in a similar phenotype, but when they are
crossed (mated) together, their offspring display a wild-type (normal) phenotype, it indicates complementation.
Example of Complementation in Human Genetics: Albinism
Albinism is a genetic disorder characterized by the absence of pigment (melanin) in the skin, hair, and eyes
It is caused by mutations in various genes involved in the production or transport of melanin
One of the genes associated with albinism is the OCA2 (Oculocutaneous Albinism 2) gene
Cross Mutant 1 x Mutant 2
• If the F1s all have the wild-type phenotype, the two mutants complement each other and the mutations are in two different genes
• If the F1s all have the mutant phenotype, the two mutants fail to complement each other and the mutations are likely in the same
gene
Gene Mapping [Link] Mapping (Linkage Mapping): Genetic mapping
determines the relative positions of genes on a
chromosome based on their patterns of inheritance and
recombination. It relies on analyzing how genes are
transmitted together or separately from one generation to
the next. By studying the frequency of recombination
events between genes, researchers can create a genetic
map that orders genes along a chromosome. Genetic maps
are measured in genetic distance units, such as
centimorgans (cM). Genetic mapping is particularly useful
for studying traits and diseases that exhibit genetic
linkage.
[Link] Mapping: Physical mapping determines the
actual physical positions of genes on a chromosome. It
involves techniques that directly examine the DNA or
chromosome structure. Physical mapping techniques
Sequence-Tagged Site mapping include DNA sequencing, restriction mapping, and
hybridization techniques. These methods provide
information about the distances between genes and their
precise locations on the chromosome. Physical maps are
typically represented as linear DNA sequences, where
genes are ordered and spaced according to their physical
positions.
Let's consider an example of mapping the eye colour phenotype in fruit flies (Drosophila melanogaster) to specific genes.
Step 1: Phenotype Observation
Step 2: Crosses to Analyze Inheritance
Cross 1: Red-eyed female (AABB) x White-eyed male (aabb)
The female has two dominant alleles for both Gene A (A) and Gene B (B), resulting in red eyes.
The male has two recessive alleles for both Gene A (a) and Gene B (b), resulting in white eyes.
The F1 generation will be heterozygous for both genes (AaBb) and will have red eyes due to the dominance of the alleles.
Cross 2: Red-eyed male (AABB) x Sepia-eyed female (AAbb)
The male has two dominant alleles for both Gene A (A) and Gene B (B), resulting in red eyes.
The female has one dominant allele for Gene A (A) and one recessive allele for Gene B (b), resulting in sepia eyes.
The F1 generation will be heterozygous for Gene A (Aa) and homozygous recessive for Gene B (bb), resulting in red eyes due to
the dominance of the A allele.
Cross 3: Sepia-eyed male (AAbb) x White-eyed female (aabb)
The male has one dominant allele for Gene A (A) and two recessive alleles for Gene B (bb), resulting in sepia eyes.
The female has two recessive alleles for both Gene A (a) and Gene B (b), resulting in white eyes.
The F1 generation will be heterozygous for Gene B (Bb) and homozygous recessive for Gene A (aa), resulting in sepia eyes due to
the dominance of the B allele.
Pedigree analysis
1. Autosomal Dominant Disorders: Autosomal
dominant disorders are caused by mutations in a
single gene located on one of the autosomes
(non-sex chromosomes). A person with one copy
of the mutated gene (heterozygous) will express
the disorder, even if they have one normal copy
of the gene. The presence of the mutated allele
(dominant allele) is sufficient to cause the
disorder.
Example: Huntington’s disease: mutation in
the HTT gene on chromosome 4
2. Autosomal Recessive
Disorders: Autosomal
recessive disorders are
caused by mutations in a
single gene located on one of
the autosomes. In this case,
two copies of the mutated
gene (homozygous) are
necessary to express the
disorder. Individuals who
carry one normal copy of the
gene and one mutated copy
(carriers) typically do not
show symptoms but can pass
the mutation to their
offspring.
Example: Cystic Fibrosis:
mutations in the CFTR gene
on chromosome 7
X-Linked Recessive Disorders Inheritance pattern
X-Linked Disorders: X-linked disorders are caused by
mutations in genes located on the X chromosome. As
males have one X chromosome and females have two
X chromosomes, the inheritance of X-linked disorders
shows distinctive patterns between genders.
Example: Hemophilia A: mutations in the F8 gene on
the X chromosome
1. In peas, seeds can be round (R) or wrinkled (r) and either yellow (Y) or green (y). Stem length may result in a tall (T) or dwarf (t) plant.
a. In the cross (parent A) TTYyRr x TtYyRr (Parent B), how many different types of gametes can be produced by each parent and how
many different phenotypes are possible from the cross?
b. What proportion of the offspring from the cross in part would be tall with yellow, wrinkled seeds?
c. In the cross TtYYRr x ttYYrr what proportion of the offspring would be expected to be tall plants with round, yellow seeds?
[Hint: here are the hints for each part:
a. Hint: Determine the number of gamete combinations by considering each gene separately. For phenotypes, think about all possible
trait combinations.
b. Hint: Use the Punnett square to find the proportion of offspring with the specific traits tall, yellow, and wrinkled.
c. Hint: Focus on the probability of each gene's contribution to the phenotype. Multiply the probabilities for tall, round, and yellow
traits.]
2. Create a visual representation, such as a flowchart or diagram, to explain the different types of inheritance patterns (autosomal dominant,
autosomal recessive, and X-linked) using specific genetic disorders as examples.
[Hints: Organize the flowchart or diagram to highlight the key features of each inheritance pattern, including the genotypes and
phenotypes of affected individuals.]