Missense variations in the cystic fibrosis gene: Heteroduplex formation in the F508C mutation

Abstrakt

Kobayashi et al. (1990) have described missense variations in the conserved region of exon 10 of the cystic fibrosis (CF) transmembrane conductance regulator

(CFTR) gene. In their paper, two AF508 /F508C compound heterozygous individuals were reported. Clini- cal and epithelial physiological studies in both cases were normal, suggesting that the substitution of cysteine for phenylalanine at position 508, the F508C mutation, is benign. However, Kerem et al. (1990) reported a patient with this substitution who had typical symptoms of CF.

Klíčová slova

• cystic fibrosis