CURRENT CONCEPTS IN GENETICS - CYSTIC-FIBROSIS

Carriers of the gene leading to cystic fibrosis occur quite frequently in the Caucasian population; approximately 1 in 20 persons is heterozygous for cystic fibrosis. No clinical characteristics have been demonstrated that identify the heterozygote. Heterozygotes do not express the disease and generally do not know of their carrier state until they have children with cystic fibrosis. A major aim in research on cystic fibrosis is the development of a test that offers reliable detection of the heterozygote and of the fetus with cystic fibrosis.