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Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories
Author(s) -
Schwarz Martin J.,
Malone Geraldine M.,
Haworth Andrea,
Cheadle Jeremy P.,
Meredith A. Linda,
Gardner Anne,
Sawyer I. Hilary,
Connarty Margaret,
Dennis Nick,
Seller Anneke,
Harris Ann,
Taylor Rohan,
Dear Simon,
MiddletonPrice Helen,
McMahon Cathie,
Mayall Ed,
McMahon Rob,
Barton David E.,
Giles Martin,
Lindley Victoria,
Plaha Davinder S.,
Price Susan,
Sharif Abid,
Cross Gareth S.,
Dalton Ann,
Taylor Graham,
Wallace Andrew,
Tassabehji Mayada,
Whittaker Joanne L.,
Butler Rachel,
Curtis Ann,
Pinkett Ros,
Gilfillan Annette J.,
Brock David J. H.,
Higgins G. Scott,
Lanyon George,
Miedzybrodzka Zosia,
Davidson Mark,
Graham Colin A.,
Hill Alison J. M.
Publication year - 1995
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380060406
Subject(s) - biology , genetics , cystic fibrosis , mutation , medical genetics , gene
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. © 1995 Wiley‐Liss, Inc.