Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis

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...

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Veröffentlicht in:	Human genetics 1993-10, Vol.92 (3), p.289-295
Hauptverfasser:	SERETH, H, SHOSHANI, T, NURIT BASHAN, BAT-SHEVA KEREM
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Base Sequence Biological and medical sciences cystic fibrosis Cystic Fibrosis - epidemiology Cystic Fibrosis - ethnology Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator DNA Mutational Analysis DNA Primers Epistasis, Genetic Gastroenterology. Liver. Pancreas. Abdomen Gene Frequency Genes, Lethal Haplotypes Humans Israel - epidemiology Jews - genetics Liver. Biliary tract. Portal circulation. Exocrine pancreas man Medical sciences Membrane Proteins - genetics Molecular Epidemiology Molecular Sequence Data Mutation Other diseases. Semiology Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Selection, Genetic
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