ABCMdb

PMID: 7678316

Kubesch P, Dork T, Wulbrand U, Kalin N, Neumann T, Wulf B, Geerlings H, Weissbrodt H, von der Hardt H, Tummler B
Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis.
Lancet. 1993 Jan 23;341(8839):189-93., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC7 p.Arg347Pro With the exception of DgrF508/R347P compound heterozygotes, patients of the same mutation genotype were either pancreas insufficient (PI) or pancreas sufficient (PS). Login to comment 53 ABCC7 p.Arg347Pro Patients of the same genotype were either all PI or all PS at diagnosis, the exception being the AF508/R347P compound heterozygotes (3 PI, 2 PS). Login to comment 62 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Arg1162* most rapidly in AF508 compound heterozygotes with a stop mutation (G542X, R553X, R1162X, W1282X) or another mutation in the NBF-encoding exons on the second disease allele: Risk factor* Compound heterozygote (95% Cl) p AF508/nonsense 2-47 (1-42-4-29) < O-(Xn AF508/missense 0-78 (0-43-1-41) NS AF508/frameshift 0-52(021-132) NS AF508/splice site 0.40 (0-19--()-S6) < 0-05 OF508/NBFl orNBF2 1-99 (1-22-3-25) <0-01 AF508/TM1 or TM2 0-62 (0-30-1-30) NS AF508/R domain 0-46 (0-17-1-29) NS *Relative to AF508 homozygous group. Login to comment 71 ABCC7 p.Pro574His ABCC7 p.Gly551Ser ABCC7 p.Tyr563Asn The NBF gene mutations in the study population were all severe disease alleles with respect to pancreatic function, and none of the rare PS alleles G551S, Y563N, P574H was detected.4,25 Hence, our findings do not necessarily imply that a NBF mutation should a priori be considered a "high risk" allele but rather that the more common "severe" disease alleles cluster in the NBF. Login to comment 90 ABCC7 p.Ala455Glu The association between exocrine pancreatic function and genotypematched for 11 genotypes, the exception being the DgrF508/A455E compound heterozygotes (Hannover 1PI, Toronto 2PS). Login to comment