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. O...
Topics
- Alleles
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- DNA Primers
- Epistasis, Genetic
- Gene Frequency
- Genes, Lethal
- Haplotypes
- Humans
- Israel
- Jews
- Membrane Proteins
- Molecular Epidemiology
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction