BENIGN MISSENSE VARIATIONS IN THE CYSTIC-FIBROSIS GENE

  • 1 October 1990
    • journal article
    • research article
    • Vol. 47  (4) , 611-615
Abstract
The common mutation causing cystic fibrosis is a deletion of phenylalanine 508 (.DELTA.F508), which occurs in a putative nucleotide-binding fold of the gene proudct. We report two additional mutations, subtitution of cysteine for phenylalanine 508 (F508C) and substitution of valine for isoleucine 506 (I506V). Three compound heterozygous persons, two .DELTA.F508/F508C and one .DELTA.F508/I506V, had normal clinical and epithelial physiological studies indicating that the F508C and I506V mutations are benign. This opportunity to study the in vivo function of these mutations suggests that amino acid substitutions are more benign than changes in the length of this portion of the putative nucleotide-binding fold. These mutations must be taken into account when perfoming molecular diagnosis and carrier detection for cystic fibrosis.