Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories

Martin J. Schwarz*, Geraldine M. Malone, Andrea Haworth, Jeremy P. Cheadle, A. Linda Meredith, Anne Gardner, I. Hilary Sawyer, Margaret Connarty, Nick Dennis, Anneke Seller, Ann Harris, Rohan Taylor, Simon Dear, Helen Middleton‐Price, Cathie McMahon, Ed Mayall, Rob McMahon, David E. Barton, Martin Giles, Victoria LindleyDavinder S. Plaha, Susan Price, Abid Sharif, Gareth S. Cross, Ann Dalton, Graham Taylor, Andrew Wallace, Mayada Tassabehji, Joanne L. Whittaker, Rachel Butler, Ann Curtis, Ros Pinkett, Annette J. Gilfillan, David J.H. Brock, G. Scott Higgins, George Lanyon, Zosia Miedzybrodzka, Mark Davidson, Colin A. Graham, Alison J.M. Hill

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

29 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)326-333
Number of pages8
JournalHuman Mutation
Issue number4
Publication statusPublished - 1 Jan 1995


  • Cystic fibrosis
  • Geographical variation
  • Mutations


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