Article
Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis.
Human genetics - 1 Oct 1993
Sereth H, Shoshani T, Bashan N, Kerem B S
Abstract excerpt
The major cystic fibrosis (CF) mutation, delta F508, is associated with one haplotype (B) determined by the two polymorphic markers, XV2C and KM19. This haplotype is rare (15%) among non-CF chromosomes. Its frequency among non-delta F508 CF chromosomes is 50% with variation between populations. One hypothesis for the high frequency of CF haplotype B chromosomes suggests that there was a selective advantage for CF...
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