Читать книгу Protocols for High-Risk Pregnancies - Группа авторов - Страница 106

Cystic fibrosis is caused by autosomal recessive inheritance of a mutation of the CFTR gene. CFTR is responsible for production of proteins that aid in transmembrane transport of chloride and regulate the activity of other ion channels. Greater than 2000 CFTR mutations have been identified, although most of the mutations are exceptionally rare. Individuals with cystic fibrosis can be homozygotes or compound heterozygotes. Genotype can provide some insight into phenotype due to variable effects of these mutations on the chloride channel proteins.