ABCMdb

PMID: 8880589

Carles S, Desgeorges M, Goldman A, Thiart R, Guittard C, Kitazos CA, de Ravel TJ, Westwood AT, Claustres M, Ramsay M
First report of CFTR mutations in black cystic fibrosis patients of southern African origin.
J Med Genet. 1996 Sep;33(9):802-4., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Gly1249Glu The other mutations were G1249E and a previously unreported in frame 54 bp deletion within exon 17a involving nucleotides 3196-3249 (3196del54). Login to comment 21 ABCC7 p.Gly1249Glu Direct sequencing of the PCR products showed two known CFTR mutations (3120 + 1 G->A and G1249E) and a previously unreported mutation (3196del54). Login to comment 23 ABCC7 p.Gly1249Glu The remaining CFTR genes had the G1249E mutation, a missense mutation owing to aG to A transition at nucleotide 3878 in exon 2010 and the deletion mutation, 3196del54. Login to comment 29 ABCC7 p.Gly1249Glu ABCC7 p.Gly1249Glu Since the 3120 + 1G-oA mutation has been found in association with the same haplotype in southern Africa and in central west Africa (Cameroon) it is suggested that the group.bmj.comon October 25, 2012 - Published byjmg.bmj.comDownloaded from CFTR mutations in black cysticfibrosis patients ofsouthern African origin Table I Haplotypes associated with the CFTR mutations in the three South African black patients and one Cameroonian patient Haplotypet Parental Patient origin Mutation* met XV KM D9 J44 6a 470 1898 2694 3601 3.11 1 Mother 3120 1 1 2 2 1 7 1 2 2 2 2 Father 3120 1 1 2 2 1 7 1 2 2 2 2 2 Mother 3120 1 1 2 2 1 7 1 2t 2 2 2 Father G1249E 1 1 2 2 1 7 1 1 1 1 1 3 Mother 3120 1 1 1 7 1 2 2 2 2 Father 3196 1 1 7 1 1 1 2 2 4§ Mother AF508 1 2 1 6 1 1 1 1 Father 3120 1 2 1 7 1 2 2 2 * 3120 = 3120 + lG-*A. Login to comment 43 ABCC7 p.Gly1249Glu For the mutations 3120 + JG-*A and G1249E, the homoduplex of the mutated allele is situated at a higherposition in the gel than the nornmal homoduplex because oflower stability owing to the replacement of G by A in the mutant (H: heteroduplexes; nh: normal homoduplexes; Mh: mutant honmoduplexes). Login to comment 45 ABCC7 p.Gly1249Glu Exon 20: lane 1, patient 2 (heterozygous for G1249E); lane 2, normal controL Exon 1 7a: lanes 1 and 3, normal controls; lane 2, patient 3 (heterozygous for 3196del54). Login to comment 65 ABCC7 p.Gly1249Glu 10 Greil I, Wagner K, Rozenkranz W A new missense mutation G1249E in exon 20 of the CFTR gene. Login to comment 68 ABCC7 p.Gly1249Glu 10 Greil I, Wagner K, Rozenkranz W A new missense mutation G1249E in exon 20 of the CFTR gene. Login to comment