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Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers

✍ Scribed by Núria Morral; Thilo Dörk; Roser Llevadot; Violetta Dziadek; Bernard Mercier; Claude Férec; Bruno Costes; Emmanuelle Girodon; Julian Zielenski; Lap-Chee Tsui; Burkhard Tümmler; Xavier Estivill

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
1006 KB
Volume
8
Category
Article
ISSN
1059-7794

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✦ Synopsis

We have analyzed 416 normal and 467 chromosomes carrying 94 different cystic fibrosis (CF) mutations with polymorphic genetic markers 144, IVS6aGATT, IVS8CA, T854, IVSl7BTA, IVSl'IBCA, and TUB2O. The number of mutations found with each haplotype is proportional to its frequency among normal chromosomes, suggesting that there is no preferential haplotype in which mutations arise and thus excluding possible selection for specific haplotypes. While many common mutations in the worldwide CF population showed absence of haplotype variation, indicating their recent origins, some mutations were associated with more than one haplotype. The most common CF mutations, AF508, @5423(, and N1303K, showed the highest number of slippage events at microsatellites, suggesting that they are the most ancient CF mutations. Recurrence was probably the case for 9 CF mutations (R117H, H199Y, R347YH, R347P, L558S, 2184insA, 3272-26A+G, R1162X, and 3849 + 10kbC+T). This analysis of 94 CF mutations should facilitate mutation screening and provides useful data for studies on population genetics of CF.

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