Genetic disorder
Genetic disorder
• A genetic disorder is a disease caused in whole
or in part by a change in the DNA sequence
away from the normal sequence.
• A genetic disorder is a health problem caused
by one or more abnormalities in the genome.
• It can be caused by a mutation in a single gene
(monogenic) or multiple genes (polygenic) or
by a chromosomal abnormality.
Mutation
• Mutation is an alternation in the nucleotide sequence of the
genome of an organism, virus or extrachromosomal DNA.
Mutation causing agents
Types of genetic disorders (inherited)
• Single gene inheritance
• Multifactorial inheritance
• Chromosome abnormalities
Single gene inheritance
• Single gene inheritance is also called
Mendelian or monogenetic inheritance.
• Changes or mutations that occur in the DNA
sequence of a single gene cause this type of
inheritance.
• There are thousands of known single-gene
disorders. These disorders are known as
monogenetic disorders (disorders of a single
gene).
• Single-gene disorders have different patterns of
genetic inheritance, including
• Autosomal dominant inheritance, in which only
one copy of a defective gene (from either parent)
is necessary to cause the condition;
• Autosomal recessive inheritance, in which two
copies of a defective gene (one from each parent)
are necessary to cause the condition; and
• X-linked inheritance, in which the defective gene
is present on the female, or X-chromosome.
X-linked inheritance may be dominant or
recessive.
Autosomal dominant
Familial hypercholesterolemia
Neurofibromatosis type I
Hereditary spherocytosis
Marfan syndrome
Huntington's disease
Autosomal recessive
• Sickle cell anaemia
• Phenylketonuria
• Cystic fibrosis
• Tay–Sachs disease
• Autosomal recessive polycystic kidney disease
• Mucopolysaccharidoses
• Lysosomal acid lipase deficiency
• Glycogen storage diseases
• Galactosemia
X-linked
• Duchenne muscular dystrophy
• Hemophilia
Multifactorial inheritance
• Multifactorial inheritance is also called
complex or polygenic inheritance.
• Multifactorial inheritance disorders are
caused by a combination of environmental
factors and mutations in multiple genes.
Multifactorial inheritance
• Birth defects such as neural tube defects and cleft palate
• Cancers of the breast, ovaries, bowel, prostate, and skin
• High blood pressure and high cholesterol
• Diabetes
• Alzheimer disease
• Schizophrenia
• Bipolar disorder
• Arthritis
• Osteoporosis
• Skin conditions such as psoriasis, moles, and eczema
• Asthma and allergies
• Multiple sclerosis and other autoimmune disorders
Chromosomal abnormalities
• Chromosomes, distinct structures made up of
DNA and protein, are located in the nucleus of
each cell.
• Because chromosomes are the carriers of the
genetic material, abnormalities in
chromosome number or structure can result
in disease.
• Chromosomal abnormalities typically occur
due to a problem with cell division.
Chromosomal abnormalities
• Down syndrome (trisomy 21)
• 45, X (Turner syndrome)
• 47, XXY (Klinefelter syndrome)
• 47, XYY; and 47, XXX
• The major chromosomal aneuploidies seen in
live-born babies are: trisomy 18; trisomy 13.
References:
• Concepts of Genetics (9th ed.), W. S. Klug, M. R. Cummings, C.
Spencer, C. A. Spencer, and M. A. Palladino, Pearson, 2008.
• Molecular Genetics (Second edition), Stent, G. S.; and
Calender, R. W.H. Freeman and company, Distributed by Satish
Kumar Jain for CBS Publisher.
• Human genetics : concepts and applications. Lewis, Ricki.
(2007). Boston :McGraw-Hill Higher Education.
• Genetics (9th ed.), Verma PS and Agarwal VK (2010).
Publisher: S Chand & Co Ltd.
• Textbook of PUBLIC HEALTH AND HYGIENE, G Shanmugavel
and Binu George (2021). Publisher: Darshan Publishers.
