GENETICS

Dr. Jinia Hasan

List of topics
• Chromosome and cell division
• Molecular genetics
• Clinical genetics

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 Mitosis Dr. Jinia Hasan

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 Meiosis Dr. Jinia Hasan

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Structure
of DNA
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 Base pair
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 Codon

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 Transcription and Translation

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 Genome
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• Definition: The complete genetic

material of an organism

• Genome bases are build to preserve

species in as pure a state as possible

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 Gene

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• Gene is a unit of heredity which is transferred from a
parent to offspring and is held to determine some
characteristic of the offspring.
• A distinct sequence of nucleotides forming part of a
chromosome.

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 Mutation Classification
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1. Genome Mutations:
Loss or gain of whole chromosome → monosomy
or trisomy
2. Chromosome Mutations:
Re arrangement of genetic material → visible
structural changes in chromosome
3. Gene Mutation:
– Mostly associated with hereditary diseases
– Partial or complete deletion of gene
– OR more often a single base is affected
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 Genetic disorder
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• Chromosomal disorder
• Mitochondrial disorder
• Multifactorial disorder
• Somatic cell genetic disorder
• Single gene (Autosomal and X-linked) disorder

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 Mendelian Inheritance
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• The process of genetic transmission of traits

from parents to offspring is called inheritance.
• It is also defined as the sum of the
characteristics genetically transmitted from
parents to offspring
• Mendelian Inheritance is that which follows
Mendel’s law

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 Mendal’s Law
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1. Principle of segregation: A given pair of

alleles segregate randomly when gametes are
formed
2. Law of independent assortment: Each pair of
alleles will assort independently and
randomly from every other pair of alleles.

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 Characterstics of Mendelian Inheritance
AD AR XR
Vertical transmission - Vertical transmission
50% offspring affected 25% if both parents are - Dr. Jinia Hasan
carriers
Males and females Males and females Usually only males
affected equally affected equally affected
Both homozygotes and Disease expressed only Heterozygote males
heterozygotes affected. in homozygotes. affected. Heterozygote
Homozygotes more Heterozygotes not females may be affected
severely affected affected because of lyonization
Affected pass on Affected have children Heterozygote males
disease. Unaffected do who are carriers affected. Heterozygotes
not females may be affected
because of lyonization
Variable expressivity Constant expressivity Variable expressivity

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Ocular Genetics (Kanski)

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 Autosomal Dominant
 Familial ectopia lentis  Marfan syndrome (FBN1 gene)
 Weill Marchesani syndrome  Osteogenesis Imperfecta
 Ehlers Danlos syndrome (Type IV  Capillary Hemangioma
collagen defect) Dr. Jinia Hasan
 Cavernous Hemangioma  NF1 (NF1 gene in chromosome 17)
 Retinoblastoma (RB1 gene in  Tuberosclerosis
chromosome 13q14)
 Von hippel Lindau disease  Keratoconus
 Lattice stromal corneal dystrophy  Granular corneal dystrophy
 Microcornea  Moderate sclerocornea
 Congenital cataract  Fuchs endothelial corneal
dystrophy (COL8A2 gene)
 Pigment dispersion syndrome  Dominant optic dystrophy
 Optic disc drusen  Optic disc coloboma
 Myotonic Dystrophy  Alport syndrome
 Stickler syndrome  Retinitis Pigmentosa
 Muir Torre syndrome

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 Autosomal Recessive
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 Homocysteinuria  Galactosemia
 Xeroderma pigmentosa  Severe sclerocornea
 Congenital glaucoma  Ectopia Lentis
(10% AR, 90% sporadic)
(CYP1B1 gene-angle
maldevelopment)
 Weill marchesani  Manosidosis
syndrome
 Retinitis Pigmentosa

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 X-linked Recessive
 Megalocornea  Alport syndrome (AR,AD
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also)
 Lowe syndrome  Mannosidosis (deficiency
of α mannosidase
enzyme)

X-linked Dominant
 Bazex Dupre Christol  Aicardi syndrome
syndrome
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Ref: Forrrester
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 •Non-nuclear DNA
•Circular in form
•Exclusively maternal in origin Dr. Jinia Hasan

•Example: Leber’s Heriditary Optic Neuropathy (LHON)

Kearns sayre syndrome (Atypical retinitis pigmentosa)

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 Multifactorial Disorder
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• Disorders caused by multiple genes along with

additives such as environmental factors are
called multifactorial or polygenic disorders.

+ environment

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 • Trisomy Dr. Jinia Hasan

• Down’s syndrome
• Klienfelter syndrome
• Turner’s syndrome

- From handnote

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 Color Vision
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• Red and green – X chromosome
• Blue – Chromosome 7
• Naming:
– Deuteranopia- Absence of green cone
– Protanopia- Absence of red cone
– Tritanopia- Absence of blue cone
Deuteranomaly- Defective green cone
Protanomaly- Defective red cone
Tritanomaly- Defective blue cone Ref: Elklington
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 Color Vision
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• Red-green deficiency occurs in-

– 8% of men
– 0.5% women
• Commonest- deuteranomaly/deuteranopia
• Tritan defect is rare

Ref: Elklington
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 Color Vision
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• Optic nerve diseases:

– Causes Red-green defect
– Exception: Glaucoma & Autosomal dominant optic
neuropathy (Blue-yellow defect occurs)
• Acquired retinal diseases:
– Causes Blue-yellow defect
– Exception: Cone dystrophy & Stargardt disease
(Red-green defect occurs)
Ref: Elklington
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 Retinoblastoma Gene
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 The first human cancer

suppressor gene to be
completely charted

 The retinoblastoma
gene, located on long
arm of chromosome 13
(13q14)
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 The Retinoblastoma Gene Product
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