Epidemiology And Etiology

In the United States, CF most commonly occurs in the Caucasian population, ranging from 1 in 1,900 to 3,700 individuals. CF is less common in Hispanics (1 in 9,000), African Americans (1 in 15,000), and Asian Americans (1 in 32,000).1 CF is inherited as an autosomal recessive trait, and approximately 1 in 25 Caucasians are heterozygous carriers. Offspring of a carrier couple (each parent being heterozygous) have a 1 in 4 chance of having the disease (homozygous), a 1 in 2 chance of being a carrier (heterozygous), and a 1 in 4 chance of receiving no trait. The gene mutation is found on the long arm of chromosome 7 and encodes for the CF transmembrane regulator (CFTR) protein, which functions as a chloride channel to transport water and electrolytes. Over 1,000 mutations have been described in the CF gene; however, the AF508 mutation is the most common and is present in 70% to 90% of CF patients in the United States.2

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