Cystic fibrosis: genotypic and phenotypic variations

J Zielenski, LC Tsui - Annual review of genetics, 1995 - annualreviews.org
J Zielenski, LC Tsui
Annual review of genetics, 1995annualreviews.org
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 (CFfR), 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 additional mutant alleles of different forms have …
Abstract
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 (CFfR), 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 additional mutant alleles of different forms have been detected. Many of these mutations can be divided into five general classes in terms of their demonstrated or presumed molecular consequences. In addition, a good correlation has been found between CFfR genotype and one of the clinical variables-pancreatic function status. An unexpected finding, however, is the documentation of CFfR mutations in patients with atypical CF disease presentations, including congenital absence of vas deferens and several pulmo nary diseases. Thus, the implication of CFfR mutation is more profound than CF alone.
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