ABCMdb

PMID: 10456926

Parad RB, Gerard CJ, Zurakowski D, Nichols DP, Pier GB
Pulmonary outcome in cystic fibrosis is influenced primarily by mucoid Pseudomonas aeruginosa infection and immune status and only modestly by genotype.
Infect Immun. 1999 Sep;67(9):4744-50., [PubMed]

Sentences

No. Mutations Sentence Comment

20 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* While ⌬F508 and other CFTR gene alleles (e.g., W1282X, and G551D) can be categorized as severe with respect to the level of exocrine pancreatic dysfunction (20), correlations of genotype with the severity of pulmonary disease have been less clear. Login to comment 51 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg560Thr Genomic DNA isolated from each subject was evaluated for the presence of any of twelve CFTR gene mutations (⌬F508, G551D, G542X, 621ϩ1G3T, ⌬I507, 1717-1 G3A, R117H, N1303K, W1282X, R560T, R553X, and 3849ϩ10kb C3T) by one of three standard assays (10, 11, 32). Login to comment 101 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Of these 12, 9 had one ⌬F508 CFTR gene allele, but the second allele was identified for only 2 of these 9 subjects (N1303K and G542X); the remaining 7 subjects carried a second CFTR gene allele that was not among the 12 most common ones we screened for. Login to comment 102 ABCC7 p.Gly551Asp ABCC7 p.Gly542* Two uninfected patients lacking any opsonic antibody were also compound heterozygotes with one of the two alleles not identified and the second allele being either G542X or G551D. Login to comment 118 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* with overall opsonic antibody titer of Ն5 26 14 Ͻ0.001 a Distribution of non-⌬F508 CFTR gene alleles in the uninfected group: G542X, 3 alleles; G551D, 1 allele; W1282X, 1 allele; N1303K, 1 allele; and not identified, 14 alleles. Login to comment 119 ABCC7 p.Gly551Asp ABCC7 p.Gly542* Distribution in the infected group was as follows: G542X, 2 alleles; G551D, 2 alleles; 621ϩ1G3T, 1 allele; and not identified, 7 alleles. Login to comment