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Thursday, February 28, 2013

Cystic fibrosis is an autosomal recessive disease due to mutation in the long arm of chromosome number  7 (in the region 7q31.2) which codes for a critical chloride channel known as cystic fibrosis transmembrane conductance regulator (CFTR) protein.

The most common mutation in norther European and American populations is DF508 (deletion, phenylalanine at position 508).

Cystic fibrosis is the most common fatal genetic disease in Caucasians, with a carrier rate of 1 in 22 and an incidence of about 1 in 2000 live births.