LUDER, E Gene TOPICS IN CLINICAL NUTRITION  1999 SEP ;14(4):22-30


ABSTRACT: Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gen was identified in 1989 on chromosome 7. The encoded gene product, named cystic fibrosis transmembrane conductance regulator (CFTR), corresponds to a cyclic adenosine monophosphate (cAMP)-regulated chloride channel found almost exclusively in the secretory epithelial cells. Although the major mutation that results in a single amino acid deletion (AF508) accounts for 70% of the disease alleles, more than 700 additional mutant alleles of different forms have been detected. A good correlation has been found between CFTR genotype and one of the clinical variables-pancreatic function status. Much has been learned about the feasibility of gene therapy; however, there are substantial challenges ahead before gene therapy for CF can be considered a proven therapeutic option.

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