Wednesday, November 9, 2011

Single-gene diseases

Huntington's disease - HTT gene (chr4) - dominant and penetrant
Alzheimer's disease - APOE gene (chr19) - strictly not single-gene disease but 1 epsilon allele copy x3 chance, 2 copies x15 chance
Cystic fibrosis - CFTR gene (chr7) - autosomal recessive - mainly Caucasians
Tay-Sach's disease - HEXA gene (chr15) - autosomal recessive - almost exclusive to Ashkenazi Jews
Hemophilia - X-linked recessive (hence more males than females)

-----http://en.wikipedia.org/wiki/Genetic_disorder#Single_gene_disorder
-----http://www.nytimes.com/2009/01/11/magazine/11Genome-t.html?pagewanted=all

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