03 Inheritance and Variation

3.6 Chromosomal Theory of Inheritance –

Mendel’s Work
• Gregor Johann Mendel published work on inheritance of traits in 1866.
• His work was unnoticed till 1900 because:
o Poor communication.
o Use of mathematics and statistics was new in biology.
o His idea of factors (genes) being stable and non-blending was not accepted.
o He didn’t know the location of genes in cells.

Rediscovery of Mendel’s Work

• In 1900, Hugo de Vries, Correns, and von Tschermak independently rediscovered
Mendel’s work.
• By then, microscopy had improved; scientists could now see cell division and
chromosomes.

Sutton and Boveri’s Contribution (1903)

• Walter Sutton and Theodor Boveri studied how chromosomes behave like
Mendel’s factors during meiosis.
• They proposed the Chromosomal Theory of Inheritance.

Key Points of Chromosomal Theory

1. Chromosomes are the carriers of genes (genetic material).
2. Chromosomes are found in pairs in somatic cells.
3. During meiosis:
o Homologous chromosomes pair up.
o They segregate and assort independently.
o Each gamete (sperm/egg) gets one chromosome from each pair.
4. Gametes (sperm and egg) carry all hereditary traits.
5. Fusion of haploid male and female gametes restores diploid chromosome number.

Always Remember

• Genes and chromosomes occur in pairs in diploid organisms.

• Alleles on chromosomes segregate with chromosomes during gamete

formation.

Can You Recall?

1. What is a chromosome?
→ A thread-like structure in the nucleus that carries genes.
2. How many chromosomes in humans?
→ Somatic (body) cells: 46 chromosomes (23 pairs)
→ Gametes (sperm/egg): 23 chromosomes
 3.7 Chromosomes –

What are Chromosomes?

• Filamentous structures in the nucleus of eukaryotic cells.
• Term "chromosome" (Chromo = colour, Soma = body) was given by W. Waldeyer
(1888).
• Visible during cell division (especially metaphase).
• They are involved in:
o Heredity
o Mutation
o Variation
o Evolution

Structure and Composition

• Made of:
DNA
Histone and Non-histone proteins
• A typical chromosome has:
o Two chromatids joined at the
centromere (primary constriction).
o Kinetochore: A disc-shaped structure
where spindle fibres attach.
o Secondary constriction: May form
nucleolus.
o SAT body: Found in some
chromosomes.
o Chromonema: Coiled thread of DNA
in each chromatid.
o Telomeres: Ends of chromatids.
 Types of Chromosomes (Based on Centromere
Position)
1. Metacentric (V-shaped)
2. Submetacentric (L-shaped)
3. Acrocentric (J-shaped)
4. Telocentric (I-shaped)

Number of Chromosomes
• Constant for each species → Important for
taxonomy and evolution.
• Human:
o Somatic cells: 46 chromosomes (23 pairs)
o Gametes: 23 chromosomes

Ploidy and Chromosome Sets

• Ploidy: Refers to number of
chromosome sets.
• Euploidy: Chromosome number is
exact multiple of x (basic set)
o Haploid (n or x): 1 set
o Diploid (2n): 2 sets
o Triploid (3n), Tetraploid
(4n), etc.
• Aneuploidy: Addition or deletion of one or more chromosomes
→ Not exact multiple of x

Sex Chromosomes (Allosomes)

• Determine sex of an organism
• Humans: X and Y chromosomes
 o X chromosome:
▪ Longer, metacentric, more
euchromatin (active DNA)
o Y chromosome:
▪ Shorter, acrocentric, more
heterochromatin (inactive DNA)
• Homologous regions → Crossing over occurs
here
• Non-homologous regions → Contain unique
genes:
o X-linked genes on X
o Y-linked genes on Y

Can You Tell?

1. What are allosomes?
→ Sex chromosomes (X and Y in humans)
2. Compare X and Y chromosomes:
o X: Long, metacentric, active, more genes
o Y: Short, acrocentric, mostly inactive
3. Where does crossing over happen?
→ In the homologous region of X and Y chromosomes
 3.8 Linkage and Crossing Over –

Linkage
• Definition: When two or more genes are located close together on the same
chromosome, they are inherited together. This is called linkage.
• Linked genes: Genes on the same chromosome that are inherited together.

Discovered by:
• Bateson and Punnett (in plants)
• T.H. Morgan (in animals)

Types of Linkage:
1. Complete Linkage:
o Genes are very close together.
o No crossing over occurs.
o Only parental traits are inherited.
o Example: X chromosome in male Drosophila.
2. Incomplete Linkage:
o Genes are farther apart on the same chromosome.
o Crossing over occurs.
o New traits (recombinants) appear.
o Example: In Zea mays, color and shape of grain.

Linkage Group
• Definition: A group of all linked genes on a chromosome.
• The number of linkage groups = haploid number of chromosomes.
o Example:
▪ Drosophila = 4 linkage groups
▪ Pea plant = 7 linkage groups
 ▪ Human = 23 linkage groups

▪ Maize = 10 linkage groups

Sex Linkage
• Inheritance of genes on sex chromosomes (X and Y) is called sex-linked
inheritance.

Types of Sex Linkage:

1. Complete Sex Linkage:
o Genes on non-homologous regions of X or Y chromosomes.
o No crossing over, so inherited together.
o Examples:
▪ X-linked: Haemophilia, Red-green color blindness, Myopia
▪ Y-linked: Hypertrichosis, H-Y antigen
2. Incomplete Sex Linkage:
o Genes on homologous regions of X and Y chromosomes.
o Crossing over occurs → traits are not always inherited together.
o Examples: Total color blindness, Nephritis, Retinitis pigmentosa

Crossing Over
• Definition: Exchange of genetic material between non-sister chromatids of
homologous chromosomes, creating new gene combinations.
• Occurs during: Pachytene stage of Prophase I of Meiosis I
• Term given by: T.H. Morgan

Steps in Crossing Over:

1. Synapsis
2. Tetrad formation
3. Crossing over
4. Terminalization
• Increases genetic variation
• Helps in evolution and natural selection

Morgan’s Work
• Used Drosophila melanogaster (fruit fly) for genetic research.
• Found that:
o Closely linked genes show few
recombinations (e.g. y and w → 1.3%)
o Loosely linked genes show more
recombinations (e.g. w and m → 37.2%)

Always Remember

• Linkage ➝ More parental combinations

• Crossing over ➝ More recombinants (new traits

 Use Your Brain Power
Q: How many linkage groups are there in—
Humans? → 23 linkage groups
Maize? → 10 linkage groups
3.9 Autosomal Inheritance :
• Human body cells (somatic cells) have 23 pairs of chromosomes (2n = 46):
o 1 pair = Sex chromosomes (X & Y) → decide sex
o 22 pairs = Autosomes → control traits other than sex

Autosomal Inheritance :
• Transmission of traits through autosomes.
• Traits are not related to sex.
• Traits may be dominant or recessive.

Types of Autosomal Traits:

Autosomal Dominant Traits:

• Trait appears if even one dominant gene is present.
• Examples:
o Widow’s peak
o Huntington’s disease

➤ Widow’s peak:
• A V-shaped hairline on the forehead.
• Caused by dominant gene (W).
o WW or Ww → widow’s peak
o ww → straight hairline
• Equal chance in both males and females

Autosomal Recessive Traits:

• Trait appears only when two recessive genes are present (homozygous).
• Examples:
o Phenylketonuria (PKU)
 o Cystic fibrosis
o Sickle cell anaemia

➤ Phenylketonuria (PKU):
• Inborn metabolic disorder
• Caused by recessive gene
• Deficiency of phenylalanine hydroxylase enzyme
o Cannot convert phenylalanine → tyrosine
o Phenylalanine accumulates in blood & CSF → causes brain damage &
mental retardation
o Excess is excreted in urine
• Appears equally in both sexes
• Tends to skip generations
3.10 Sex Linked Inheritance

Sex-linked genes:
• Genes located on the non-homologous region of sex chromosomes (X or Y)
• Traits determined by these genes = Sex-linked traits
• Types:
o X-linked genes
o Y-linked (Holandric) genes

A. X-linked Inheritance:
• Genes found on the X chromosome
• X-linked traits appear:
o In females, only if both X chromosomes carry the recessive gene
o In males, even one recessive gene on X chromosome causes the trait
▪ Because Y chromosome has no corresponding dominant gene to
suppress it

Female Genotypes:
• XCXC → Normal
• XCXc → Carrier
• XcXc → Affected

Male Genotypes:
• XCY → Normal
• XcY → Affected

Hence, X-linked traits appear more in males than females

Examples of X-linked Recessive Disorders:

1. Colour Blindness:
• Can’t differentiate between red and green
 • Due to lack of cone cells in retina
• Caused by recessive gene on X chromosome
• More common in males

Marriage Examples:

• Colour blind male (XcY) × Normal

female (XCXC):
o Daughters → Carriers (XCXc)
o Sons → Normal (XCY)

• Carrier female (XCXc) × Normal

male (XCY):
o 25% daughters = normal
o 25% sons = normal
o 25% daughters = carriers
o 25% sons = colour blind

Criss-cross inheritance: Trait passes from father → daughter → grandson

2. Haemophilia (Bleeder’s Disease):
• Blood doesn’t clot properly
• Caused by deficiency of clotting factors VIII or IX
• Due to recessive X-linked gene

Males affected if they inherit XʰY

Females affected only if XʰXʰ

Marriage Examples:

• Haemophilic male (XʰY) × Normal

female (XᴴXᴴ):
o Sons → Normal (XᴴY)
o Daughters → Carriers (XᴴXʰ)

• Carrier female (XᴴXʰ) × Normal male

(XᴴY):
o 25% daughters = normal
o 25% sons = normal
o 25% daughters = carriers
o 25% sons = haemophilic

Criss-cross inheritance is also seen in

haemophilia

Called "The Royal Disease" — spread in royal families of England, Germany, Russia,
Spain
Queen Victoria was a carrier
 B. Y-linked (Holandric) Inheritance:
• Genes present on non-homologous part of Y chromosome
• Passed from father to son only
Example:
• Hypertrichosis: Excessive hair on pinna of ear

CASE STUDY
Aarya shows normal blood clotting but her mother is haemophilic. Ramesh shows normal
blood clotting but his father is haemophilic. If Ramesh and Aarya were to marry, then find
out the posible phenotypes of their offsprings?

➤ Aarya: Normal clotting

(Mother is haemophilic → must be XʰXʰ)
→ So Aarya must be carrier (XᴴXʰ)

➤ Ramesh: Normal clotting

(Father is haemophilic → XʰY)
→ So Ramesh must be XᴴY

➤ Aarya (XᴴXʰ) × Ramesh (XᴴY)

Punnett Square Outcomes:

Offspring Genotype Phenotype

XᴴXᴴ Girl Normal

XᴴXʰ Girl Carrier

XᴴY Boy Normal

XʰY Boy Haemophilic

Possible Phenotypes of Offspring:

• 25% Normal girl
• 25% Carrier girl
• 25% Normal boy
• 25% Haemophilic boy
3.11 Sex Determination

Definition:
The process by which the sex (male or female)
of an individual is determined is called Sex
Determination.

Sexual Phenotype:
Refers to the outward appearance of sex, i.e.,
male or female.

Types of Organisms:
• Monoecious / Hermaphrodite: Same
organism has both male and female
reproductive organs (e.g., earthworm).
• Dioecious / Unisexual: Male and female
reproductive organs are present in
separate individuals (e.g., humans).

Discovery:
• In 1891, Henking, a German biologist, studied spermatogenesis in squash bug.
• He found 50% sperms with an extra structure he called X-body.
• Later it was discovered that this X-body is actually a chromosome, now called the X-
chromosome.

a. Sex Determination in Humans (XX-XY Type)

• Human body cells have 46 chromosomes (23 pairs):
– 22 pairs of autosomes
– 1 pair of sex chromosomes
• Females have XX (homomorphic) sex chromosomes.
• Males have XY (heteromorphic) sex chromosomes.
• During gamete formation:
– Males produce two types of sperms: one with X and one with Y chromosome.
– Females produce only one type of egg: all with X chromosome.

Fertilization:
 • Egg (X) + Sperm (X) → XX (Female)
• Egg (X) + Sperm (Y) → XY (Male)

Sex of child is determined by the father, not the mother.

Due to lack of knowledge, women are often wrongly blamed for giving birth to
daughters.

b. Sex Determination in Birds (ZW-ZZ Type)

• In birds, females are ZW
(heterogametic), and males are ZZ
(homogametic).
• Female birds produce two types of
eggs (Z and W).
• Male birds produce only one type of
sperm (Z).

Sex of the offspring is determined by

the egg, not by the sperm.

Something Interesting – Bonellia viridis (A marine worm):

• Sex is determined by environmental factors.

• If larva settles on sea floor, it becomes a female.
• If larva lands on the proboscis of a female, enters her body → becomes a male.
• Male lives as a parasite inside the female and fertilizes her eggs.
c. Sex Determination in Honey Bees (Haplo-diploid Type)
• In honey bees:
– Females (queen & worker) are diploid
(2n = 32).
– Males (drones) are haploid (n = 16).
• Female produces haploid eggs through
meiosis.
• Male produces haploid sperms by mitosis.

If an egg is fertilized → female is formed.

If an egg is unfertilized → male is formed by
parthenogenesis.
• Among females:
– Larvae fed royal jelly → become queens (fertile).
– Larvae fed normal food → become workers (sterile).
3.12 Genetic Disorders

Definition:
Disorders caused by changes in genes or chromosomes.

Types of Genetic Disorders:

1. Mendelian Disorders – caused by mutation in a gene.
Examples:
o Thalassemia
o Sickle cell anaemia
o Colour blindness
o Haemophilia
o Phenylketonuria
2. Chromosomal Disorders – caused by loss, gain or abnormal arrangement of
chromosomes.
Examples:
o Down’s syndrome
o Turner’s syndrome
o Klinefelter’s syndrome

Thalassemia
• Type: Mendelian, autosomal recessive disorder.
• Cause: Mutation or deletion in genes coding for alpha (α) or beta (β) globin chains of
haemoglobin.
– α-chain: Controlled by HBA1 & HBA2 on chromosome 16
– β-chain: Controlled by HBB gene on chromosome 11
• Types:
– Alpha-thalassemia
– Beta-thalassemia
• Symptoms:
– Anaemia, pale yellow skin
– Abnormal RBCs
– Slow growth
 – Dark urine
– Needs frequent blood transfusion
• Difference from Sickle Cell Anaemia:
– Thalassemia: Problem in amount of globin made.
– Sickle Cell: Problem in structure of globin made.

Down’s Syndrome (21st Trisomy)

• Type: Chromosomal disorder
• Cause: Extra copy of chromosome 21 (three
instead of two)
• Total Chromosomes: 47 (normal is 46)
• Caused by non-disjunction during gamete
formation
• Common in mothers over 45 years

• Symptoms:
– Mental retardation
– Flat face, small ears and mouth
– Protruding tongue
– Slanted eyes
– Broad palm with single crease
– Short stature

Turner’s Syndrome (XO Females)

• Type: Sex chromosomal disorder
• Genotype: 44 autosomes + XO
• Cause: Non-disjunction during egg formation
• Phenotype: Female
• Symptoms:
– Short height
– Webbed neck
– Broad chest
 – Underdeveloped ovaries and breasts
– Low intelligence

Klinefelter’s Syndrome (XXY Males)

• Type: Sex chromosomal disorder
• Genotype: 44 autosomes + XXY
• Cause: Extra X chromosome due to non-disjunction during meiosis in egg
• Phenotype: Male
• Symptoms:
– Tall, long arms
– Feminine traits (like gynaecomastia – breast development)
– Underdeveloped testis
– Sterile (no sperms)
– Harsh voice