ABCMdb

PMID: 7680378

Curtis A, Richardson RJ, Boohene J, Jackson A, Nelson R, Bhattacharya SS
Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.
J Med Genet. 1993 Feb;30(2):164-6., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCC7 p.Ser549Asn Molecular and clinical data are presented which may improve our understanding of the phenotypic effects of the S549N mutation in the CFTR gene. Login to comment 15 ABCC7 p.Gly551Asp ABCC7 p.Arg553* In this study, we have analysed 443 unaffected Asians (400 unrelated Indians, 43 unrelated orientals) and 222 unrelated Caucasians from north-east England for the presence of exon 10 A F508 mutations and 200 members of the same Asian sample for the exon 11 mutations G551D, R553X, and S549.4 In addition, we have identified a Pakistani child with CF with consanguineous parents who is homozygous for the exon 11 mutation R549N. Login to comment 19 ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Gly85Glu ABCC7 p.Ser549Asn ABCC7 p.Ser549Asn Such homozygotes are likely to be extremely rare, but some useful cases have been identified, such as aG85E homozygotel' and an R553X" homozygote, in addition to the S549N case described here. Login to comment 28 ABCC7 p.Ser549Asn Her lungs have been infected by mucoid strains of Pseudomonas 164 group.bmj.comon October 25, 2012 - Published byjmg.bmj.comDownloaded from Absence of cysticfibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistanifamily aeruginosa since the age of 5 years. Login to comment 29 ABCC7 p.Ser549Asn Her lungs have been infected by mucoid strains of Pseudomonas 164 group.bmj.com on December 5, 2015 - Published by http://jmg.bmj.com/ Downloaded from Absence of cysticfibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistanifamily aeruginosa since the age of 5 years. Login to comment 37 ABCC7 p.Gly551Asp ABCC7 p.Arg553* The S549 mutation was detected by the removal of a DdeI site and G551D and R553X mutations were identified by the creation of an MboI site and the removal of a HinclI site respectively in the exon 11 PCR product. Login to comment 38 ABCC7 p.Gly551Asp ABCC7 p.Arg553* The S549 mutation was detected by the removal of a DdeI site and G551D and R553X mutations were identified by the creation of an MboI site and the removal of a HinclI site respectively in the exon 11 PCR product. Login to comment 42 ABCC7 p.Gly551Asp Eleven of these carried the A F508 mutations and two had the G551D mutation. Login to comment 43 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Arg553* None of the unaffected Asian samples tested (400 unrelated Indians, 43 unrelated orientals) were AF508, G551D, R553X, or S549 carriers. Login to comment 44 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Arg553* The five members of the Pakistani family tested negative for the AF508, G551D and R553X mutations, but the affected child appeared homozygous for the rare exon 11 S549 mutation when the PCR product failed to digest with DdeI. Login to comment 45 ABCC7 p.Gly551Asp ABCC7 p.Arg553* The five members of the Pakistani family tested negative for the AF508, G551D and R553X mutations, but the affected child appeared homozygous for the rare exon 11 S549 mutation when the PCR product failed to digest with DdeI. Login to comment 48 ABCC7 p.Ser549Asn These show a G to A substitution at cDNA nucleotide position 1778 which creates the S549N (Ser-+Asn) mutation in the CFTR protein previously described by Cutting et al.4 Discussion Cystic fibrosis has rarely been described in subjects from the Asian population. Login to comment 49 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Ser549Asn ABCC7 p.Ser549Asn No carriers of the commonest Caucasian CF mutation (AF508) or of the less common G551D, R553X, and S549N mutations were detected in an Asian population of 443 unrelated subjects, even though the frequency of 5-8% in our population was slightly greater than expected. Login to comment 50 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Ser549Asn No carriers of the commonest Caucasian CF mutation (AF508) or of the less common G551D, R553X, and S549N mutations were detected in an Asian population of 443 unrelated subjects, even though the frequency of 5-8% in our population was slightly greater than expected. Login to comment 52 ABCC7 p.Ser549Asn The affected Pakistani child studied here is homozygous for a rare CF mutation, S549N. Login to comment 53 ABCC7 p.Ser549Asn The affected Pakistani child studied here is homozygous for a rare CF mutation, S549N. Login to comment 54 ABCC7 p.Ser549Asn The detection of this mutation allowed carrier testing for her two unaffected brothers, neither of whom were shown to carry the S549N mutation (figs 1 and 2). Login to comment 55 ABCC7 p.Ser549Asn The detection of this mutation allowed carrier testing for her two unaffected brothers, neither of whom were shown to carry the S549N mutation (figs 1 and 2). Login to comment 81 ABCC7 p.Arg553* ABCC7 p.Gly542* A CFTR product cystic fibrosis patient with the nonsense mutation G542X zygous R553X and the splice site mutation 1717-1 J Med Genet*1991;28:878-80. in a substitution io Chalkley G, Harris A. Login to comment 84 ABCC7 p.Arg553* ABCC7 p.Gly542* A CFTR product cystic fibrosis patient with the nonsense mutation G542X zygous R553X and the splice site mutation 1717-1 J Med Genet *1991;28:878-80. in a substitution io Chalkley G, Harris A. Login to comment 85 ABCC7 p.Arg553* A nbrane protein, cystic fibrosis patient homozygous for the nonsense muta-tion R553X. Login to comment 88 ABCC7 p.Arg553* A nbrane protein, cystic fibrosis patient homozygous for the nonsense mutation R553X. Login to comment