Monday, August 9, 2010

DISEASES CAUSED BY HUMAN GENETIC DISORDERS,Haemophilia ,Colour Blindness ,

DISEASES CAUSED BY HUMAN GENETIC DISORDERS



RH factor incompatibility - RH factor

ABO incompatibility - Incompatible Blood groups of donor and recipent

Albinism - Pigment melanin is not synthesised (gene mutation)

Phenylketonuria - Inborn error in metabolism of animo acid phenylalanine

Tay-Sach's disease - Severe brain and spinal cord damage

Sickle cell anaemia - Single mutation in a gene (sickle shaped RBC)

Haemophilia - Sex-linked disorder (blood does not clot)

Colour Blindness - Sex-linked disorder (inability to distinguish colours)

Down's syndrome - Extra chromosome 21 (trismy 21)

Klinefelter's syndrome - Extra X chromosome in males (trisomy)

Turner's syndrone - Missing X chromosome in females (monosomy)

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