CYSTIC-FIBROSIS MUTATION ANALYSIS - REPORT FROM 22 UK REGIONAL GENETICS LABORATORIES

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 mutation s so far observed and accounting for 86% of CF genes in the native Cau casian population of the United Kingdom. Delta F508 is the most common at 75.3% 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) (0.9 3%; 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%), Th e data show a clear geographical variation in the distribution of some of the mutations, most notably a marked regional variation in the dis tribution of 621+1 (G>T) and 1989+1 (G>A), which are both apparently m ore frequent in Wales. R560T and R117H appear to be more frequent in I reland and Scotland, and G551D more frequent in Scotland. In summary, these data illustrate that the mutations present within a particular p opulation need to be defined in order to provide meaningful carrier sc reening and testing for rare mutations in affected individuals. Furthe rmore, it is apparent that the ethnic origin of a patient, even within a small country such as the United Kingdom, should be taken into acco unt. (C) 1995 Wiley-Liss, Inc.