ABCMdb

PMID: 9727805

Robertson NH, Weston SL, Kelly SJ, Duxbury NJ, Pearce SR, Elsmore P, Webb MB, Newton CR, Little S
Development and validation of a screening test for 12 common mutations of the cystic fibrosis CFTR gene.
Eur Respir J. 1998 Aug;12(2):477-82., [PubMed]

Sentences

No. Mutations Sentence Comment

12 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* The CFTR gene mutations that are detected by the test are 1717-1G>A, G542X, W1282X, N1303K, ∆F508, 3849+ 10kbC>T, 621+1G>T, R553X, G551D, R117H, R1162X and R334W, which are described by KAZAZIAN [10] and papers cited therein. Login to comment 38 ABCC7 p.Phe508Cys For example, ∆F508 and non-∆F508 alleles should not be confused with either the mutant ∆I507 or the benign F508C allele. Login to comment 48 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* The A-tube contains ARMS primers specific for the 1717-1G>A, G542X, W1282X, N1303K, ∆F508 and 3849+10kb C>T mutations. Login to comment 49 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg1162* The B-tube contains ARMS primers specific for the 621+1 G>T, R553X, G551D, R117H, R1162X and R334W mutations. Login to comment 73 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* - Analysis of the 754 chromosomes tested Mutation Independent typing method* Totals 1717-1G>A G542X W1282X N1303K ∆F508 3849+10kbC>T 621+1G>T R553X G551D R117H R1162X R334W Other/none Number of samples Total number of chromosomes ASO ASO ASO ASO Electrophoresis Digest (HphI) Digest (MseI) Digest (HincII) Digest (NdeI) ASO Digest (DdeI) Digest (MspI) 16 10 16 12 89 11 7 15 16 13 11 6 532 377 754 *: Confirmatory typing as detailed in references cited within [10]. Login to comment 75 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* (97) (130) (160) (212) (240) (279) (329) (487) (487) (383) (325) (285) (243) (200) (160) (140) (97) (100) (150) (200) (250) (300) (350) (400) (450) (500) (550) apoB apoB ∆F508(N) ODCODC 3849+10kbC>T 1717-1G>A G542X W1282X N1303K ∆F508(M) R334W R1162X R117H G551D R553X 621+1G>T A-tube B-tube Marker Fig. 1. Login to comment 84 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* Where rare non-∆F508 compound heterozygotes have been obtained (3849+10kbC>T/W1282X; 3849+10kb C>T/G542X; G542X/N1303K; G542X/W1282X; G551D/ R553X; N1303K/1717-1G>A; G542X/17171G>A; N1303K/ W1282X; R553X/R334W) and analysed, both mutations were correctly identified. Login to comment 86 ABCC7 p.Arg1283Met ABCC7 p.Phe508Cys ABCC7 p.Arg117Cys There was no mistyping when ∆I507, 1717-2A>G, R1283M, R117C, 3617G/T, 621+2T>C or F508C alleles were present. Login to comment 99 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* 1: 1717-1G>A/+; 2: G542X/+; 3: W1282X/+; 4: N1303K/+; 5: ∆F508/+; 6: 3849+10kbC>T/+; 7: +/+; 8: +/+; 9: ∆F508/∆F508; 10: 621+1G>T/+; 11: R553X/+; 12: G551D/+; 13: R117H/+; 14: R1162X/ +; 15: R334W/+; 16: +/+; 17: +/+; 18: ∆F508/∆F508; 19: ∆F508/+. Login to comment 102 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* 1: +/+; 2: 1717-1G>A/+; 3: G542X/+; 4: W1282X/+; 5: N1303K/+; 6: ∆F508/+; 7: 3849+10kbC>T/+; 8: 621+1G>T/+; 9: R553X/+; 10: G551D/+; 11: R117H/+; 12: R1162X/+; 13: ∆F508/∆F508; 14: R334W/+. Login to comment 104 ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* 15: +/+; 16: +/+; 17: R553X/+; 18: +/+; 19: ∆F508/+; 20: +/+; 21: +/+; 22: R117H/∆F508; 23: ∆F508/∆F508; 24: +/+: 25: G542X/N1303K; 26: no deoxyribonucleic acid (DNA) control. Login to comment 107 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* The CF(12)m test screens for the CF mutations 1717-1G>A, G542X, W1282X, N1303K, ∆F508, 3849+10kbC>T, 621+ 1G>T, R553X, G551D, R117H, R1162X and R334W, the most common CF mutations in Caucasians and Ashkenazi Jews. Login to comment 113 ABCC7 p.Phe508Cys CUPPENS and CASSIMAN [20] demonstrated that 12.5% of laboratories mistyped the F508C polymorphism as a true mutation and that 12.5% confused the ∆I507 mutation for ∆F508. Login to comment 117 ABCC7 p.Phe508Cys The CF(12)m test discriminates accurately between ∆F508 and non-∆F508 alleles which, in turn, are distinguished from the mutant ∆I507 and the benign F508C alleles, although the mutant ∆I507 allele is not detected using the kit. Login to comment 119 ABCC7 p.Gly551Asp ABCC7 p.Gly542* Furthermore, the finding from another study [15], which compared multiplex ARMS screening for the ∆F508, G551D, G542X and 621+1G>T alleles [8] with alternative routine procedures for the same alleles, was that multiplex ARMS was the preferred method. Login to comment