Cystic fibrosis: genotypic and phenotypic variations.

  title={Cystic fibrosis: genotypic and phenotypic variations.},
  author={Julian Zielenski and Lap Chee Tsui},
  journal={Annual review of genetics},
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identified in 1989 on the basis of its map location on chromosome 7. The encoded gene product, named cystic fibrosis transmembrane conductance regulator (CFTR), corresponds to a cAMP-regulated chloride channel found almost exclusively in the secretory epithelial cells. Although the major mutation that results in a single amino acid deletion (F508) accounts for 70% of the disease alleles, more than 550… CONTINUE READING