title: Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families.
abstract: We have estimated the haplotype distribution of mutant and normal phenylalanine hydroxylase (PAH) alleles for 17 Turkish phenylketonuria (PKU) families: 20 normal and 27 mutated PAH alleles could be identified. Of the latter, the most prevalent were associated with haplotype 6 (29.6%), 1 (18.5%) and 36 (11.1%), while the normal alleles were preferentially associated with haplotype 1 (20%). Of the 19 different haplotypes observed, 5 have not been described previously. The haplotype distribution differed significantly from that of the Northern European population. Two of the eight polymorphic sites were in association with PKU. No deletions of exon sequences were found in the families analysed.
authors.affiliation: Institut für Humangenetik, Freie Universität Berlin, (West).
authors.forename: M
authors.initials: M
authors.lastname: Stuhrmann
authors.forename: O
authors.initials: O
authors.lastname: Riess
authors.forename: E
authors.initials: E
authors.lastname: Mönch
authors.forename: G
authors.initials: G
authors.lastname: Kurdoglu
mesh_terms: D000483:Alleles; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D008297:Male; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D014421:Turkey
chemical_list: D010651:Phenylalanine Hydroxylase