ABCMdb

PMID: 15047968

King PT, Freezer NJ, Holmes PW, Holdsworth SR, Forshaw K, Sart DD
Role of CFTR mutations in adult bronchiectasis.
Thorax. 2004 Apr;59(4):357-8., [PubMed]

Sentences

No. Mutations Sentence Comment

230 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Val520Phe The patients were screened for the 10 most common mutations in the local population (DF508, D1507, V520F, G542X, G551D, R553X, R117H, 621+1GRT, A455E and N1303K) responsible for 82% of cases of CF and the 5T mutation by previously published methods.7 8 Ethical approval for the project was obtained from the ethics committee at MMC. Login to comment 246 ABCC7 p.Gly551Asp Three of the subjects had mutations of the most common CFTR mutation (DF 508) which is responsible for 67.5% of CFTR mutations in the local population and the other subject had the second most common mutation (G551D, 4.7%). Login to comment 297 ABCC7 p.Gly551Asp Diagnostic value of tests that discriminate between exudative Table 1 CFTR mutations/sweat tests in 100 adults with bronchiectasis Age Sex Allele 1 Allele 2 5T variant Sweat test (chloride levels) 54 F DF 508 2ve +ve 38 mmol/l 70 F DF 508 2ve 2ve 34 mmol/l 72 F DF 508 2ve 2ve 36 mmol/l 69 M G551D 2ve 2ve Not done doi: 10.1136/thx.2003.020263 This work was supported by a grant from the National Health & Medical Research Council of Australia (to PK). Login to comment