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1.

Single gene(Mendellian)
EXAMPLE :- Sickle cell anemia,Tay-sachs disease,Cystic fibrosis,Xeroderma
pigmentosa

2. Complex (multifactorial) Disorder


EXAMPLE :- Arthritis,diabetes,heart disease.

3. CHROMOSOMAL DISORDERS
Down syndrome, Edwards syndrome,Jacobsen syndrome , Klinefelter
syndrome.

4. Cancer (Somatic mutation)


Cellular proliferation is under genetic control and

development of cancer is related to a combination of

environmental mutagens, somatic mutation and inherited

predisposition. Molecular studies have shown that several

mutational events, that enhance cell proliferation and increase

genome instability, are required for the development of

malignancy. In familial cancers one of these mutations is

inherited and represents a constitutional change in all cells,

increasing the likelihood of further somatic mutations

occurring in the cells that lead to tumour formation.

Chromosomal translocations have been recognised for many

years as being markers for, or the cause of, certain neoplasms,

and various oncogenes have been implicated.

The risk that a common cancer will occur in relatives of an

affected person is generally low, but familial aggregations that

cannot be explained by environmental factors alone exist for

some neoplasms. Up to 5% of cases of breast, ovary, and bowel


cancers are inherited because of mutations in incompletely

penetrant, autosomal dominant genes. There are also several

cancer predisposing syndromes that are inherited in a

mendelian fashion, and the genes responsible for many of

these have been cloned.

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