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Major genetic diseases

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The 23 pairs of chromosomes are identified by number, according to size. Chromosome 1 is the largest, chromosome 22 the smallest. The other pair of chromosomes are the sex chromosomes, designated X and Y. Women have two of the large X chromosomes and men have one large X and a small Y.

Though the identity and function of most of our genes have yet to be discovered, scientists already have discovered thousands of genes that appear to be linked to diseases. Here’s a short list of where some of these genes are located:

Chromosome 1

•Malignant melanoma
•Prostate cancer
•Gaucher disease
•Glaucoma

Chromosome 2

•Essential tremor
•Colorectal cancer

Chromosome 3

•Small-cell lung cancer
•Von Hippel-Lindau
•Lung cancer
•Colon cancer

Chromosome 4

•Huntington's disease
•Polycystic kidney disease
•Parkinson's disease

Chromosome 5

•Spinal muscular atrophy
•Endometrial carcinoma

Chromosome 6

•Hemochromatosis
•Dyslexia
•Schizophrenia
•Diabetes

Chromosome 7

•Diabetes
•Cystic fibrosis
•Severe obesity

Chromosome 8

•Hemolytic anemia
•Burkitt's lymphoma

Chromosome 9

•Dilated cardiomyopathy
•Malignant melanoma

 Chromosome 10

•Congenital cataracts
•Refsum disease
•Gyrate atrophy

Chromosome 11

•Sickle-cell anemia
•Long QT syndrome
•Diabetes
•Multiple endocrine neoplasia

Chromosome 12

•Inflammatory bowel disease
•Rickets
•Phenylkenoturia

Chromosome 13

•Breast cancer
•Retinoblastoma
•Wilson disease

Chromosome 14

•Leukemia/T-cell lymphoma
•Alzheimer's disease

Chromosome 15

•Marfan's syndrome
•Juvenile epilepsy

Chromosome 16

•Polycystic kidney disease
•Familial gastric cancer

Chromosome 17

•Tumor-suppressor protein
•Breast cancer
•Retinitis pigmentosa
•Osteoporosis
•Anxiety-related personality traits
•Neurofibromatosis
•Leukemia
•Muscular dystrophy
•Growth hormone deficiency

 Chromosome 18

•Pancreatic cancer
•Diabetes mellitus
•Familial carpal tunnel syndrome

Chromosome 19

•Atherosclerosis
•Myotonic dystrophy
•Malignant hyperthermia
•Alzheimer's disease

Chromosome 20

•Severe combined immuno-deficiency
•Creutzfeldt-Jakob's disease

Chromosome 21

•Autoimmune polyglandular disease
•Amyotrophic lateral sclerosis

Chromosome 22

•Ewing's sarcoma
•Giant-cell fibroblastoma
•Chronic myeloid leukemia

X Chromosome

•Colorblindness
•Gout
•Hemophilia
•Duchene muscular dystrophy
•Mental retardation

Y Chromosome

•Gonadal dysgenesis
•Testis determining factor

James Hilston, Post-Gazette
Source: National Geographic, Newsweek

 



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