ABCMdb

PMID: 7505689

Cheadle JP, Goodchild MC, Meredith AL
Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales.
Hum Mol Genet. 1993 Oct;2(10):1551-6., [PubMed]

Sentences

No. Mutations Sentence Comment

19 ABCC7 p.Trp1282* Furthermore, different ethnic groups also have varying frequencies of CF mutations; for instance W1282X, a nonsense mutation in exon 20, accounts for 60% of all Ashkenazi Jewish CF chromosomes, but only 2% of the Sepharadic Jewish CF chromosomes (7). Login to comment 34 ABCC7 p.Leu1077Pro ABCC7 p.Glu60* 6'-CTGGATCCAAATGAGCACTGGG-3' 23I6' (PCR)b 23I3' (PCR)b 24IS' (PCR)b 248S': S'-CAAAGTGCGGCAGTACGATTCC-3' HAPLOTYPE LOCATION Exon Exon Exon Exon Exon Exon Exon Intron Exon Exon 1 3 8A 8B 7 11 11 12 13 13 Exon 14A Intron Exon Exon 17A 17B 19 In t ror 1 ^ Exon 21 MUTATION M1V E60X O220X 977 imA 107S delT SS49N 8S49R 1B98«1 0-A 2184 dsIA 2184 InsA W846X1 3272-26 A>Q L1077P 3069 dtIC 1A4Q«10khC>T O O ^ W lUHDv* 1 401B IntT AMINO ACID ALTERATION TRANSLATION 1N1T1 AT 10 N MUTATION Qlu>8top I t 00 Oln'Stop i t 2 : o FRAME8HIFT FRAMtBHIFT Skr'Akn 11 540 8«r>Arg it 549 8PLICINO M U TAT 10 N FHAMESHIFT FRAME8HIFT Trp>8t0p kt 146 • PUCIHO. Login to comment 55 ABCC7 p.Ser549Asn In the three CF chromosomes in which we excluded the site of the mutation from the complete coding regions, the intron splice sites, and part of the promoter region (see above) of the CFTR gene, we screened S549N heterozygote G A T C 1078 delT heterozygote G A T C G T . Login to comment 59 ABCC7 p.Ser549Arg C T T G : S S549R heterozygote G A T C 3659 deIC heterozygote C T A G " , T >G -»•Wt__ T A • C T , T A • A C C C . Login to comment 62 ABCC7 p.Ser549Arg ABCC7 p.Ser549Asn S549N (G-A a: 1778) and S549R (T-G at 1779) were sequenced from 1115', 1078 delT from 7i5\ 3659 deIC from 19e3'b, and 3272-26A-G from 17Bi5'. Login to comment 64 ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Arg560Thr ABCC7 p.Leu1077Pro ABCC7 p.Glu60* 17b 18 19 20 21 22 23 24 M1V E60X O220X | R117H G85E 621*1G>T 977msA AF508 I AI607 1898*1G>A G642X 2184delA 1078delT I I 8549N 2184insA I I 1154insTC S549R G651D I R553X I R560T I 1717-1G>A W846X1 3272-26A>G L1077P R12B3U 3669delC 4 016in aT I N1303K 3849*10kbC>T Figure 2. Login to comment 74 ABCC7 p.Arg117His ABCC7 p.Asn1303Lys ABCC7 p.Gln220* ABCC7 p.Arg1283Met ABCC7 p.Leu1077Pro Frequencies of mutations in 183 CF families m MUTATION delta FSOB 621«1<3>T 18aS«1Q>A Q661O Q642X Q85E R663X 1078delT R1283M 3669delC R117H delta I607 N1303K 1717-1Q>A R660T M1V E80X Q220X S77lnaA 1154inaTC 8S49N 8649R 2184dtlA 2184ineA W846X1 3272-26A>Q L1077P 3849>10kbC>T 4018ln«T Total Total TOTAL Welsh 131 12 10 4 5 2 4 3 1 1 2 1 2 1 1 1 1 182 183 71.8% 6.6% 5.5% 2.2% 2.7% 1.1% 2.2% 1.6% 0.5% 0.6% 1.1% 0.6% 1.1% 0.6% 0.6% 0.5% 0.5% 99.6% 0 6% Other 1 14 6 7 7 4 4 2 1 1 1 1 1 1 1 1 1 1 1 1 1 1 167 168 72.2% 3.2% 4.4% 4.4% 2.6% 2.6% 1.3% 0.6% 0.6% 0.8% 0.8% 0.8% 0.6% 0.6% 0.6% 0.6% 0.6% 0.8% 0.8% 0.6% 0.8% 99.4% 0 6% Undefined 22 2 1 1 28 26 84.6% 7.7% 3.8% 3.8% 100% Wales TOTAL 267 19 18 11 9 6 4 4 3 2 2 2 2 2 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 366 2 3 6 7 72.8% 5.2% 4.9% 3.0% 2.6% 1 4% 1.1% 1.1% 0.8% 0.6% 0.6% 0.6% 0.6% 0.6% 0.3% 0.3% 0.3% 0.3% 0.3% 0.3% 0.3% 0.3% 0.3% 0.3% 0.3% 0.3% 0.3% 0.3% 0.3% 09 6% 0 6% Table 5. Login to comment 89 ABCC7 p.Gly551Asp The two most frequent mutations in the Breton population (excluding delta F508), are 1078 delT (4.9%) and G551D (4.1%) (ref. 18); both of these mutations account for 2.2% of our 'Welsh' CF chromosomes. Login to comment 112 ABCC7 p.Arg668Cys Interestingly no missense mutations were identified in the R-domain, however we found the non-conservative substitution R668C (in exon 13) on a normal chromosome, implicating that it is benign, as reported by Fanen et al. (17). Login to comment 115 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Arg560Thr ABCC7 p.Arg1283Met Further ARMS tests are in development and in principle it should be possible to use a three tube ARMS test to assay rapidly for 13 mutations (delta F508, 621 + 1G-T, G551D, G542X, R1283M, W1282X, R553X, N13O3K, delta 1507, 1898+1G-A, R117H, R560T, and 1717-1G-A) (S.Little, personal comm.). Login to comment