ABCMdb

PMID: 7509310

Schwartz M, Anvret M, Claustres M, Eiken HG, Eiklid K, Schaedel C, Stolpe L, Tranebjaerg L
394delTT: a Nordic cystic fibrosis mutation.
Hum Genet. 1994 Feb;93(2):157-61., [PubMed]

Sentences

No. Mutations Sentence Comment

9 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* A few of the non-AF508 mutations are found in more than one population at a frequency of 1-5%, viz. W1282X (Abeliovich et al. 1992), G551D and G542X (Cutting et al. 1990, 1992) and N1303K (Osborne et al. 1991), but most of the others are rare or private mutations. Login to comment 10 ABCC7 p.Gly551Asp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Correspondence to: M. Schwartz, Section of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Screening for AF508 and a few other common mutations, i.e. G542X, N1303K, 621+lG--->T and G551D, in the Danish CF population showed that these mutations account for 90% of all CF disease genes (Schwartz et al. 1992), a fact that has been used in a recent screening programme for carriers of CF among pregnant women (Schwartz et al. 1993). Login to comment 70 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Other CF mutations Very few of the previously reported most "common" mutations (G551D, G542X, R553X, N1303K, 1717-1G---~ T, and W1282X) were identified on the "Nordic" CF chro- Discussion More than 200 CF mutations have been reported (Ysui 1992a) since the cloning of the CFTR gene. Login to comment 88 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Gly542* 394delTT should therefore be regarded as one of the most common CF mutations in these countries, as common as G542X, G551D and W1282X are in other populations. Login to comment