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Unit_B

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rohit2005ind
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Books

TEXT BOOK:
1. Microbial Genetics- Maloy, S.R. Crown, J.E., and Freifelder, D.
2. Genetics- Hartl, D.L.
3. Genetics: Analysis and Principles- Brooker, R.J.
4. Concept of Genetics – Kluggs & Cummings

REFERENCE:
1. The Science of Genetics- Antherly A.G. Girton, J.R.
2. Microbial Genetics- Freifelder, D.
3. Genetics: Analysis of Genes and Genomes- Hartl, D.L. Jones, E.
Terms and terminologies

Gene

Genome

DNA

Chromosome

Mendel

Pea plant

Traits

Phenotype

Genotype
History of Genetics

•Early Theories of Inheritance (Pre-19th Century)

•Mendelian Genetics (19th Century)

•Chromosomal Theory & DNA as Genetic Material (Early 20th Century)

•Discovery of DNA Structure & Molecular Genetics (Mid-20th Century)

•Recombinant DNA Technology & Genomics (Late 20th Century)

•Modern Genetics & Future Prospects (21st Century)


Early Theories of Inheritance (Pre-19th Century)

Pangenesis (Hippocrates, 5th Century BCE) – different body parts

Aristotelian Theory of Inheritance (4th Century BCE) – form and potential

Preformationism (17th-18th Century) – spermist and ovist

Blending Inheritance (18th-19th Century) – smooth blend of parental traits

Lamarckism (Jean-Baptiste Lamarck, Early 19th Century) – acquired traits to be passed


to generations
Mendelian Genetics (19th Century)

• Law of Segregation

• Law of Independent Assortment

• Law of Dominance

• Monohybrid, dihybrid and trihybrid cross

• Genotypic and phenotypic ratios


Chromosomal Theory & DNA as Genetic Material (Early 20th Century)

• Genes are located on chromosomes?

Walter Sutton and Theodar Boveri

• Theory was confirmed by

Thomas Hunt Morgan

• Model organism used?

Drosophila
Unit - B
Chromosomal Theory of Inheritance

• Walter Sutton, American, grasshoppers

• Theoder Boveri, German, sea urchin

• Thomas Hunt Morgan

• Drosophila Melanogaster (short life cycle, large number of offspring, easily


visible mutations, 4 pairs of chromosomes).

• 1st cross – White eye female and red eye male and cross between F 1
generation.

• 2nd cross – Red eye female and white eye male and cross between F 1
generation.

• Sex linked traits

• Sex limited traits & sex influenced traits


Morgan’s crosses
1. Determine genetic map of the genes.
2. State the type of interference involved.
Sex linked traits
• Sex-linked traits are characteristics determined by genes located on the sex chromosomes (X
and Y). Since males and females have different combinations of sex chromosomes (XX in
females, XY in males), these traits follow unique patterns of inheritance.
X-Linked Traits (Most Common)
Genes located on the X chromosome.
Males (XY) are more affected because they have only one X chromosome.
Females (XX) can be carriers without showing symptoms.
Y-Linked Traits (Rare)
Genes located on the Y chromosome.
Only inherited by males (father to son).
Examples - X-Linked Traits - Color Blindness (Red-Green), Hemophilia, Duchenne Muscular
Dystrophy (DMD); Y-Linked Traits Hairy ears, some cases of male infertility.
Sex limited traits
• Sex-limited traits are characteristics that appear only in one sex even though the genes for
these traits are present in both males and females. These traits are controlled by autosomal
genes (not located on sex chromosomes), but their expression is influenced by hormones
and sex-specific factors.
Genes are present in both sexes, but only one sex expresses the trait.
Regulated by hormones (testosterone, estrogen).
Not inherited through sex chromosomes, unlike sex-linked traits.
Do not skip generations, but only appear in one sex.

• Examples - Beard Growth in Men, Milk Production in Female Mammals, Antler Growth in
Male Deer, Hen-Feathering in Chickens

Sex influenced traits


• Sex-influenced traits are autosomal traits (not located on sex chromosomes) whose
expression is affected by sex hormones. These traits can appear in both sexes, but their
dominance or severity differs between males and females due to hormonal differences.
Genes are present in both sexes, but expression varies.
Hormones (testosterone, estrogen) affect whether the trait appears dominant or
recessive.
Not linked to X or Y chromosomes (unlike sex-linked traits).
Can be inherited from either parent, regardless of sex.
• Examples - Pattern Baldness (Male Pattern Baldness), Finger Length Ratio, Voice Depth,
Pedigree Analysis
A diagrammatic representation of a family's genetic history, used to track the inheritance of
traits (especially genetic disorders) across generations. It helps determine whether a trait is
dominant, recessive, autosomal, or sex-linked.

Symbols
Types

A. Autosomal Dominant
Example Disorders: Huntington’s disease, Marfan syndrome, Achondroplasia.
Characteristics:
Affected individuals have at least one affected parent (unless a new mutation occurs).
Males and females are equally affected.
If one parent is affected (heterozygous), 50% chance of passing it to offspring.

B. Autosomal Recessive
Example Disorders: Cystic fibrosis, Sickle cell anemia, Phenylketonuria (PKU).
Characteristics:
Skips generations (carriers are unaffected).
Males and females equally affected.
If both parents are carriers (Aa × Aa), 25% chance of affected child.

C. X-linked Dominant
Example Disorders: Fragile X syndrome, Rett syndrome.
Characteristics:
Affected fathers pass the trait to all daughters (but no sons).
Affected mothers can pass it to both sons and daughters (50% chance).
More females affected than males (since males often have more severe cases).
D. X-linked Recessive
Example Disorders: Hemophilia, Duchenne muscular dystrophy, Color blindness.
Characteristics:
Mostly males affected (females are usually carriers).
No male-to-male transmission (fathers pass X only to daughters).
Carrier mother (XᴬXᵃ) has a 50% chance of passing the affected X to sons.

E. Y-linked Inheritance
Example Traits: Male infertility genes, SRY gene.
Characteristics:
Only males affected.
Passed from father to all sons.

F. Mitochondrial (Maternal) Inheritance


Example Disorders: Leber’s hereditary optic neuropathy (LHON), MELAS syndrome.
Characteristics:
Only passed from mother to all children (mitochondria in egg cytoplasm).
Both males and females affected, but not passed on by fathers.
Steps to Analyze a Pedigree

1. Determine if the trait is dominant or recessive:


If affected individuals always have an affected parent → Dominant.
If unaffected parents can have affected children → Recessive.
2. Check if it is autosomal or sex-linked:
If males and females are equally affected → Autosomal.
If mostly males affected → X-linked recessive.
If father passes to all daughters → X-linked dominant.
3. Look for carriers (for recessive traits):
Unaffected parents of affected children must be carriers.
4. Predict genotypes:
Assign possible alleles (e.g., Aa, XᴬXᵃ) based on inheritance pattern.
Questions

Autosomal
Dominant
Recessive
The given pedigree analysis is assumed to be dependent on a single
autosomal dominant or recessive gene:
a) Indicate which is the most likely mode of inheritance for the trait.
b) Symbolize the probable genotype for each individual in each of the
pedigrees
The trait represented by shaded circles and squares in the given pedigree is
inherited through a single dominant gene where shaded represents the normal
phenotype while blank represents the affected phenotype. Calculate the
probability of the trait appearing in the offspring if the following cousins
should marry:
a) III-1 & III-3
b) III-2 & III-4

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