Table

Genetic Disorders

Genetic Disorders
Albinism Caused by recessive gene, which block the conversion of amino acid tyrosine to melanin. Effect is absence of pigment in skin, hair and iris of eyes.
Down syndrome (Mongolism) Caused by trisomy of chromosome 21. Effect is physically and mentally retarded patient with round face, widely separated eyes and slightly bitorked tongue.
Glactosemia Caused by recessive autosomal gene, results in defect in enzyme system utilizing sugar glactose lead to high-level of galactose in blood; resulted in development of cataract and brain damage.
Hemophilia Caused by sex-linked recessive gene; produce defective protein, essential for clotting of blood.
Huntington’s disease Caused by dominant autosomal gene; lead to progressive deterioration of nervous system. Peculiar feature developed between 30 to 40 years.
Klinefelter syndrome Because of additional X-chromosome; resulted in improper development of testes.
Muscular Dystrophy Caused by sex linked recessive gene, resulted in childhood musle weakness suffering and atrophy.
Phenylketonuria (PKU) Caused by recessive autosomal gene in homozygous condition, results into accumulation of acid phenylanine and brain damage. It can be prevented by giving phenylalanine diet.
Sickle Cell Anaemia Caused by recessive gene that lead to abnormal haemoglobin molecule. RBC are sickle shaped with reduced haemoglobin.
Tay-Sach disease Caused by autosomal recessive gene-resulted in cerebral degeneration, epilepsy, paralysis and blindness.
Thalassemia (Cooley’s anaemia) mostly in children caused by recessive gene-resulted abnormality in haemoglobin structures.
Turner Syndrome Caused by lack of X chromosome (OX); resulted in phenotypical female but have rudimentary sex organ and mammary gland.
Related Topicसंबंधित विषय