Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories
- 1 January 1995
- journal article
- research article
- Published by Hindawi Limited in Human Mutation
- Vol. 6 (4) , 326-333
- https://doi.org/10.1002/humu.1380060406
Abstract
We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 22 laboratories in the United Kingdom. A total of 9,807 CF chromosomes have been analysed, demonstrating 56 different mutations so far observed and accounting for 86% of CF genes in the native Caucasian population of the United Kingdom. ΔF508 is the most common at 753% of CF mutations (range 56.5–83.7%), followed by G551D (3.08%; range 0.71–7.60%), G542X (1.68%; range 0.85–3.66%), 621 + 1 (G>T) (0.93%; range 0.41–3.16%), 1717‐1(G>A) (0.57%; range 0.17‐1.14%), 1898+ 1)(G>A) (0.46%), R117H (0.46%), N1303K (0.46%), and R553X (0.46%). The data show a clear geographical variation in the distribution of some of the mutations, most notably a marked regional variation in the distribution of 621 + 1 (G>T)and 1989+ 1(G>A), which are both apparently more frequent in Wales. R560T and R117H appear to be more frequent in Ireland and Scotland, and G551D more frequent in Scotland. In summary, these data illustrate that the mutations present within a particular population need to be defined in order to provide meaningful carrier screening and testing for rare mutations in affected individuals. Furthermore, it is apparent that the ethnic origin of a patient, even within a small country such as the United Kingdom, should be taken into account.Keywords
This publication has 28 references indexed in Scilit:
- A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian originHuman Molecular Genetics, 1994
- Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→GHuman Mutation, 1994
- Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR geneGenomics, 1993
- Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in WalesHuman Molecular Genetics, 1993
- A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) geneHuman Molecular Genetics, 1993
- Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) geneHuman Molecular Genetics, 1993
- A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosisGenomics, 1992
- A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator geneHuman Molecular Genetics, 1992
- Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypesHuman Mutation, 1992
- A Deletion Mutation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Locus: DeltaI507Published by Springer Nature ,1991