Cystic fibrosis

... CYSTIC FIBROSIS Cystic fibrosis is an inherited autosomal recessive disease that exerts its main effects on the digestive system and the lungs. This disease is the most common genetic disorder amongst Caucasians. Cystic fibrosis affects about one in 2,500 people, with one in twenty five being a heterozygote. Although about 500 mutations have been identified, one mutation is particularly common and occurs in 70 percent of all defective Cystic Fibrosis genes. This most common mutation is called delta F508 Almost half of all Cystic Fibrosis patients have inherited this mutation from both their parents. Heterozygous carriers (those who have inherited only one copy of the altered gene) are asymptomatic. Two altered genes must be present for Cystic Fibrosis to appear. This means that if both parents are Cystic Fibrosis carriers, their offspring would only express Cystic Fibrosis symptoms if they had inherited one defective copy of the CFTR gene from each

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