ABCMdb

PMID: 11168023

Goldman A, Labrum R, Claustres M, Desgeorges M, Guittard C, Wallace A, Ramsay M
The molecular basis of cystic fibrosis in South Africa.
Clin Genet. 2001 Jan;59(1):37-41., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC7 p.Gly542* DF508 accounts for 76% of the CF chromosomes in this group, with 3272-26AG, 394delTT and G542X occurring at the following frequencies: 4, 3.6 and 1.3%, respectively. Login to comment 27 ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Asn Five other mutations were identified in the white population, G542X, R553X, S549N, 621+lGT and N1303K which together account for a further 3% of mutations (5). Login to comment 37 ABCC7 p.Gln493* Five mutations, 394delTT, Q493X, 3272-26AG, 3120+1GA and 2789+5GA were detected. Login to comment 40 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Gln493* White and coloured patients with unidentified CF mutations were tested for 15 mutations including 394delTT, Q493X, 3272-26A G, 3120+1GA as well as 11 other mutations, R117H, R334W, G542X, G551D, R553X, 621+ 1GT, W1282X, N1303K, 1717-1GA, R1162X, 3849+10kbCT. Login to comment 52 ABCC7 p.Gln493* The Q493X mutation was detected using ARMS PCR as described by Kerem et al. (10). Login to comment 58 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Gln493* ABCC7 p.Ser549Asn Frequency of CFTR mutations in white CF chromosomes Mutation Number of chromosomes Frequency (%) DF508 291 76 3272-26AG 16 4 394delTT 14 3.6 G542X 5 1.3 R553X 4 1 1W1282X 4 14N1303K G551D 3 0.8 3120+1GA 2 0.5 R117H 1 0.3 Q493X 1 0.3 S549N 1 0.3 621+1GT 1 0.3 1717-1GA 1 0.3 2789+5GA 1 0.3 91Total 349/384 Table 2. Login to comment 59 ABCC7 p.Gly551Asp ABCC7 p.Gly542* ABCC7 p.Arg1162* Genotypes of South African coloured CF patients Genotype Number of patients 2DF508/DF508 DF508/3120+1GA 5 1DF508/G542X DF508/U 2 3120+1GA/R1162X 1 13120+1GA/G551D 3120+1GA/U 1 1U/U 14Total U=unidentified mutation. Login to comment 62 ABCC7 p.Gly1249Glu The remaining four mutations were found on single chromosomes; G1249E and 3196del54 (8), -94GT (13) and a novel mutation, 2183delAA, the deletion of AA at 2183 in exon 13. Login to comment 81 ABCC7 p.Gly542* The G542X mutation accounted for 1.3% of mutations. Login to comment 85 ABCC7 p.Gly551Asp ABCC7 p.Gly542* ABCC7 p.Arg1162* The R1162X, G551D and G542X mutations were each found on one chromosome. A total of 82% (23/28 chromosomes) of mutations have been identified. Login to comment 88 ABCC7 p.Gly1249Glu Frequency of CFTR mutations in South African black patients ReferenceGenotypePatient 3120+1GA/3120+1GA1 2 Carles et al. (1996)3120+1GA/G1249E 3120+IGA/3196del543 -94GT/U Romey et al. (1999)4 5 3120+lGA/U Padoa et al. (1999) 3120+1GA/2183delAA This study6 U/U7 U/U8 9 U/U 10 3120+1GA/3120+1GA 11 3120+1GA/3120+1GA 3120+1GAIU12 U=unidentified mutation. Login to comment