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Untitled document

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ridimajain2006
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Genetic Disorders

Broadly, genetic disorders may be grouped into two categories – Mendelian


disorders and
Chromosomal disorders.

They are transmitted as the affected individual is sterile.This is always dominant in


nature.

Mendelian Disorders Chromosomal disorders

These are due to alteration in a single These are caused due to absence or
gene. excess of one or more chromosomes or
abnormal arrangement of one/more
chromosomes.

They are transmitted into generations They may be recessive or dominant in


through Mendelian principles of nature.
inheritance.

Examples: Colour blindness Examples: Downs syndrome, Turner’s


Pheffykenonia. syndrome

Medelian disorder includes-

a. Haemophilia- sex linked recessive disease in which, in an infected individual, a


minor cut leads to non-stop bleeding. Heterozygous female (carrier) can transmit the
disease to their son. The possibility of a female becoming a haemophilic is extremely
rare because mother of such a female has to be at least carrier and the father should
be haemophilic ( in the later stage of life).

b. Sickle cell anemia- an autosome linked recessive trait in which mutant


haemoglobin molecules undergo polymerization under low oxygen tension causing
change in shape of the RBC from biconvex disc to elongated sickle like structure.
The defect is caused by the substitution of Glutamic acid (Glu) by Valine (Val) at the
sixth position of the beta globin chain of the haemoglobin molecule. The substitution
of amino acid in the globin protein results due to the single base substitution at the
sixth codon of the beta globin gene from GAG to GUG

c. Phenylketonuria- inborn error of metabolism inherited as autosomal recessive


trait. The affected individual lacks an enzyme that converts the amino acids
phenylalanine to tyrosine . . As a result of this phenylalanine is accumulated and
converted into phenylpyruvic acid and other derivatives that results into mental
retardation.

Chromosomal Disorders-Failure of segregation of chromatids during cell division


results in loss or gain of chromosome called aneuploidy. The failure of cytokinesis
leads to two sets of chromosome called polyploidy.

a. Down’s Syndrome– is due to presence of additional copy of the chromosome


number 21. The affected individual is short statured with small rounded head,
furrowed tongue and partially opened mouth. Mental development is retarded.

b. Klinefleter’s Syndrome– due to presence of an additional copy of


X-chromosome (XXY). Such persons have overall masculine development however,
the feminine development (development of breast, i.e., Gynaecomastia) is also
expressed. They are sterile.

c. Turner’s Syndrome– caused due to the absence of one of the X chromosome. 45


with XO, such females are sterile as ovaries are rudimentary. They lack secondary
sexual characters.

c. Phenylketonuria- inborn error of metabolism inherited as autosomal recessive


trait. The affected individual lacks an enzyme that converts the amino acids
phenylalanine to tyrosine . . As a result of this phenylalanine is accumulated and
converted into phenylpyruvic acid and other derivatives that results into mental
retardation.

Chromosomal Disorders-Failure of segregation of chromatids during cell division


results in loss or gain of chromosome called aneuploidy. The failure of cytokinesis
leads to two sets of chromosome called polyploidy.

a. Down’s Syndrome– is due to presence of additional copy of the chromosome


number 21. The affected individual is short statured with small rounded head,
furrowed tongue and partially opened mouth. Mental development is retarded.

b. Klinefleter’s Syndrome– due to presence of an additional copy of


X-chromosome (XXY). Such persons have overall masculine development however,
the feminine development (development of breast, i.e., Gynaecomastia) is also
expressed. They are sterile.

c. Turner’s Syndrome– caused due to the absence of one of the X chromosome. 45


with XO, such females are sterile as ovaries are rudimentary. They lack secondary
sexual characters.

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