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A cystic fibrosis patient with ΔF508, G542X and a deletion at the D7S8 locus

✍ Scribed by Klaus Wagner; Ignaz Greil; Petra Schneditz; Michaela Pommer; Walter Rosenkranz

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 197 KB
Volume: 3
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380030328

No coin nor oath required. For personal study only.

✦ Synopsis

In 1989 the gene responsible for cystic fibrosis (CF) was cloned (Riordan et al., 1989;Rommens et al., 1989). A deletion of 3 base pairs in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene resulting in the loss of the amino acid phenylalanine at position 508 of the encoded polypeptide was found to be the most frequent mutation causing the disease (Kerem et al., 1989). The frequency of this specific alteration, AF508, was studied in different populations worldwide, and, in Europe a Northwest to Southeast gradient was noted, with values ranging from as high as 88% in Denmark to as low as 30% in Turkey (Cystic Fibrosis Genetic Analysis Consortium, 1990). In the Austrian population we found and intermediate frequency of 55% (Wagner et al., 1992), a value between those for Germany and Northern Italy.

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