Cystic Fibrosis Gene and Disease

CF is an autosomal recessive disease resulting from mutations in a gene located on chromosome 7. The prevalence of CF varies with the ethnic origin of a population. CF is detected in approximately 1 in 3000 live births in the Caucasian population of North America and northern Europe, 1 in 17,000 live births of African-Americans, and 1 in 90,000 live births of the Asian population of Hawaii. The most common mutation in the CF gene (~70 percent of CF chromosomes) is a 3-base-pair deletion that results in an absence of phenylalanine at amino acid position 508 (F508) of the CF gene protein product, known as the CF transmembrane regulator (CFTR). The large number (>400) of relatively uncommon (<2 style="font-family:Arial, sans-serif;">

More than 95 percent of male patients with CF are azoospermic, reflecting obliteration of the vas deferens that probably reflects defective liquid secretion.