Lecture 6
Linkage
The tendency of two or more genes present on the same chromosome to be inherited together
is called linkage. Genes showing this tendency are called linked genes.
In plants → William Bateson and Reginald Punnett
In animals → Thomas Hunt Morgan
Why Does Linkage Occur? Ans: Linkage occurs because genes are physically located on
the same chromosome and tend to move together during inheritance.
Types of Linkage
A. Complete Linkage
When linked genes are very closely located on the chromosome and do not separate
due to absence of crossing over, they are called completely linked genes. The
phenomenon is called complete linkage.
Features
No crossing over
Genes inherit together
Only parental combinations formed
Preserves parental traits generation after generation
Strong linkage
Example: X chromosome of male Drosophila melanogaster.
B. Incomplete Linkage
When linked genes are located far apart on the same chromosome and get separated due to
crossing over, they are called incompletely linked genes. The phenomenon is called
incomplete linkage.
Features
Crossing over occurs
Both parental and recombinant types formed
New combinations appear
Weak linkage
Example: Grain colour and grain shape in Zea mays
Linkage Groups
All linked genes present on one chromosome form a linkage group.
Important Rule
Number of linkage groups = Haploid number of chromosomes
Examples
Organism Linkage Groups Chromosome Number
Drosophila melanogaster 4 4 pairs
Garden pea 7 7 pairs
Sex Linkage
Inheritance of genes present on sex chromosomes (X or Y chromosome) is called sex-linked
inheritance.
Types of Sex Linkage
A. Complete Sex Linkage
Genes located on non-homologous regions of X and Y chromosomes show complete sex
linkage because crossing over does not occur there.
Examples
X-linked traits
Haemophilia
Red-green colour blindness
Myopia
Y-linked traits
Hypertrichosis
Ichthyosis
B. Incomplete Sex Linkage
Genes located on homologous regions of X and Y chromosomes show incomplete sex
linkage because crossing over occurs there.
Examples
Total colour blindness
Nephritis
Retinitis pigmentosa
Crossing Over
Crossing over is the process of exchange of corresponding segments between non-sister
chromatids of homologous chromosomes resulting in formation of new gene combinations
(recombinations). Coined By Thomas Hunt Morgan
Stage of Occurrence
Crossing over occurs during pachytene stage of Prophase-I of meiosis.
Steps of Crossing Over
1. Synapsis
2. Tetrad formation
3. Crossing over
4. Terminalization
Importance of Crossing Over
Produces variations
Forms recombinations
Helps in natural selection
Important in evolution
Creates genetic diversity
Relation Between Distance and Crossing Over
Genes located very close together → less crossing over
Genes located far apart → more crossing over
Thus:
Less recombination = strong linkage
More recombination = weak linkage
Morgan’s Experiment Showing Linkage and Crossing Over
Scientist: Thomas Hunt Morgan
Experimental Organism: Drosophila melanogaster
Why Morgan Used Drosophila?
Easy to culture in laboratory
Short life span
High reproductive rate
Morgan’s Crosses: Morgan crossed Yellow-bodied, white-eyed female with Brown-bodied,
red-eyed male
He intercrossed the F₁ generation.
Observations Morgan observed:
Parental combinations were more frequent.
Recombinant combinations were fewer.
F₂ ratio deviated from Mendel’s 9 : 3 : 3 : 1 ratio.
This proved that genes located on the same chromosome show linkage
Recombination Percentages
Cross Genes Recombination
Cross I Yellow body (y) and white eye (w) 1.3%
Cross II White eye (w) and miniature wing (m) 37.2%
Interpretation:
Greater distance between genes → More crossing over
Lesser distance between genes → Less crossing over
This explains:
1.3% recombination = strong linkage
37.2% recombination = weak linkage
Conclusion of Morgan’s Experiment
Genes located on the same chromosome are linked.
Parental combinations occur more due to linkage.
Recombinations occur less due to crossing over.
Lecture 7
Autosomal Inheritance
Human beings have 23 pairs of chromosomes:
22 pairs of autosomes
1 pair of sex chromosomes
The inheritance of body characters controlled by genes present on autosomes is called
autosomal inheritance. Traits controlled by autosomal genes are called autosomal traits.
Types of Autosomal Traits
A. Autosomal Dominant Traits: Traits controlled by dominant genes present on autosomes.
Examples
Widow’s peak
Huntington’s disease
B. Autosomal Recessive Traits: Traits controlled by recessive genes present on autosomes.
Examples
Phenylketonuria (PKU)
Cystic fibrosis
Sickle cell anaemia
Widow’s Peak
A prominent V-shaped hairline on the forehead is called widow’s peak.
Genetics: Widow’s peak is controlled by an autosomal dominant gene.
Genotypes:
Dominant trait
Seen in both males and females equally
Does not skip generations
Genotype Phenotype
WW Widow’s peak
Ww Widow’s peak
ww Straight hairline
Phenylketonuria (PKU)
Phenylketonuria is an inherited metabolic disorder caused by autosomal recessive genes
Autosomal recessive disorder
Appears in both sexes equally
May skip generations
Cause: Due to absence of the enzyme phenylalanine hydroxylase.
Normally:
Phenylalanine → Tyrosine
Because enzyme is absent:
Phenylalanine accumulates in blood and cerebrospinal fluid (CSF).
Excess phenylalanine is excreted through urine.
Effects of PKU
Mental retardation
Abnormal brain development
Metabolic disorder
Sex-Linked Inheritance
Inheritance of traits controlled by genes located on sex chromosomes is called sex-linked
inheritance.
Genes located on non-homologous regions of sex chromosomes are called sex-linked genes.
Types of Sex-Linked Genes
1. X-linked genes
2. Y-linked genes
X-Linked Inheritance
Genes located on non-homologous region of X chromosome are called X-linked genes.
These genes do not have corresponding alleles on Y chromosome.
In Females: Females have two X chromosomes (XX). Two recessive genes are needed for
expression of disease. If only one recessive gene is present, female becomes a carrier.
Carrier Female: A female carrying one defective recessive gene but not showing disease
symptoms.
In Males: Males have only one X chromosome (XY). Even one recessive gene expresses the
disorder because Y chromosome lacks corresponding dominant allele.
Thus, X-linked recessive disorders are more common in males.
Examples of X-Linked Disorders
Colour blindness
Haemophilia
Night blindness
Muscular dystrophy
Myopia
Y-Linked (Holandric) Inheritance
Genes located on non-homologous region of Y chromosome are called Y-linked genes.
Features
Passed directly from father to son
Seen only in males
Example: Hypertrichosis (hairy pinna of ear)
Lecture 8
Colour Blindness
Colour blindness is an X-linked recessive disorder in which person cannot distinguish
between red and green colours. Both colours appear grey.
Cause: Due to absence of colour-sensitive cone cells in retina.
Condition Symbol
Normal vision Xᴄ
Colour blindness Xᶜ
Genotypes:
Sex Normal Colour Blind Carrier
Male XᴄY XᶜY —
Female XᴄXᴄ XᶜXᶜ XᴄXᶜ
Inheritance of Colour Blindness
Cross 1: Colour Blind Male × Normal Female
Cross 2: Carrier Female × Normal Male
Offspring
Offspring Result
XᴄXᴄ Normal female
XᴄXᶜ Carrier female
XᴄY Normal male
XᶜY Colour blind male
Criss-Cross Inheritance
Transmission of X-linked recessive gene from father to grandson through daughter is called
criss-cross inheritance.
X-linked recessive disorder
More common in males
Females usually carriers
No father-to-son transmission
Haemophilia (Bleeder’s Disease)
Haemophilia is an X-linked recessive disorder in which blood fails to clot properly. Hence
continuous bleeding occurs even after minor injury. Therefore it is called Bleeder’s disease.
Cause: Deficiency of clotting factors VIII or IX.
X-linked recessive disorder
More common in males
Females usually carriers
Shows criss-cross inheritance
Condition Symbol
Normal Xᴴ
Haemophilia Xʰ
Sex Normal Haemophilic Carrier
Male XᴴY XʰY —
Female XᴴXᴴ XʰXʰ XᴴXʰ
Inheritance of Haemophilia
Cross 1: Haemophilic Male × Normal Female
Cross 2: Carrier Female × Normal Male
Offspring Result
XᴴXᴴ Normal female
XᴴXʰ Carrier female
XᴴY Normal male
XʰY Haemophilic male