ABCMdb

PMID: 11994102

Eaton TE, Weiner Miller P, Garrett JE, Cutting GR
Cystic fibrosis transmembrane conductance regulator gene mutations: do they play a role in the aetiology of allergic bronchopulmonary aspergillosis?
Clin Exp Allergy. 2002 May;32(5):756-61., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Arg117His ABCC7 p.Arg117His Results Four (12.9%) ABPA patients were found to be carriers of a CF mutation (ÁF508 n 3, R117H n 1), one (4.3%) asthmatic SPT positive to Af without ABPA (ÁF508), and one (3.6%) asthmatic SPT negative to Af (R117H). Login to comment 53 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg560Thr Cystic ®brosis mutation analysis Genomic DNA samples were screened for 16 CF mutations utilizing allelic-speci®c oligonucleotide (ASO) hybridization; ÁF508, ÁI507, R117H, W1282X, 621 IG3T, R334W, R347P, A455E, 1717-IG3A, G542X, 5549N, G551D, R553X, R560T, N1303K and 3849 10KC3T. Login to comment 55 ABCC7 p.Phe508Cys ABCC7 p.Ile506Val ABCC7 p.Ile507Val Patients were also screened for CFTR variants in intron 8 (5T, 7T and 9T) and polymorphisms F508C, I506V and I507V. Login to comment 77 ABCC7 p.Arg117His ABCC7 p.Arg117His Four (12.9%) ABPA patients had a CFTR mutation identi®ed (ÁF508 n 3, R117H n 1), which was not signi®cantly different to either group of asthmatics without ABPA; one (4.3%) asthmatic SPT positive to Af without ABPA (ÁF508) and one (3.6%) asthmatic SPT negative to Af (R117H) (P > 0.35). Login to comment 80 ABCC7 p.Arg117His The R117H mutation can be associated with either the 5T or 7T variant of the polythymidine tract in intron 8 of the CF gene [33]. Login to comment 89 ABCC7 p.Arg117His ABCC7 p.Arg117His patient carrying R117H was homozygous for the 7T variant, indicating that R117H was associated with 7T in this patient. Login to comment 90 ABCC7 p.Arg117His The status of the R117H mutation in the ABPA patient could not be established because the patient carried the 5T and 7T variants. Login to comment 117 ABCC7 p.Arg117His ABCC7 p.Arg117His Group comparison of CFTR mutations Asthma SPT-positive Af with ABPA Asthma SPT-positive Af without ABPA Asthma SPT-negative Af n 31 n 23 n 28 Presence of CFTR mutations n (%) 4 (12.9%)* 1 (4.3%) 1 (3.6%) (exact CI) (3.68, 29.8) (0.11, 21.9) (0.09, 18.3) Type of CFTR mutation ÁF508, n 3 R117H, n 1 ÁF508 R117H *No evidence of a difference in proportions in the three groups, P > 0.35. function as a disease modi®er, potentially increasing disease severity. Login to comment