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Gradient of distribution in europe of the major cf mutation and of its associated haplotype


, : Gradient of distribution in europe of the major cf mutation and of its associated haplotype. Human Genetics 85(4): 436-445

In this collaborative European study, a total of 4871 cystic fibrosis (CF) chromosomes and 3539 normal chromosomes have been characterized for the haplotypes defined by the 2 extragenic polymorphic sequences revealed by XV2c and KM19. The association between one of these haplotypes (B haplotype) and the most frequency CF mutation, .DELTA.F508, suggests for the latter a single origin and a subsequent diffusion according to a South East-North West gradient. The linkage disequilibrium data between CF and the B haplotype in different European populations are compatible with a relatively more recent appearance of the mutation in Northern Europe whereas in Southern Europe a longer history of the same mutation would have allowed time for recombination with other haplotypes. This model is also compatible with a selective advantages of carriers but does not account for (1) the excess of B haplotype observed among both normal and non-.DELTA.F508 CF chromosomes; (2) the correlation between the B haplotype and the severity of the phenotypic effect caused by CF mutations, as measured by pancreatic insufficiency and meconium ileus.

US$19.90

DOI: 10.1007/bf02428304


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