title: Geographical distribution gradients of the major PKU mutations and the linked haplotypes.
abstract: Analysis of 81 phenylketonuria families from Bulgaria, Lithuania and eastern Germany demonstrated a high frequency of haplotype 2 and the associated Arg408----Trp408 substitution. Haplotype 3 and the splicing mutation in intron 12 are rare or absent in the groups studies. Pooling the data on European populations suggests a Balto-Slavic origin of the defect in codon 408 of the phenylalanine hydroxylase gene and a geographical gradient in the distribution of both major PKU mutations which may contribute to the higher incidence of classic PKU in northern Europeans.
authors.affiliation: Laboratory of Molecular Pathology, Medical Academy, Institute of Obstetrics, Sofia, Bulgaria.
authors.forename: L
authors.initials: L
authors.lastname: Kalaydjieva
authors.forename: B
authors.initials: B
authors.lastname: Dworniczak
authors.forename: V
authors.initials: V
authors.lastname: Kucinskas
authors.forename: V
authors.initials: V
authors.lastname: Yurgeliavicius
authors.forename: E
authors.initials: E
authors.lastname: Kunert
authors.forename: J
authors.initials: J
authors.lastname: Horst
mesh_terms: D002031:Bulgaria; D003062:Codon; D005060:Europe; D008040:Genetic Linkage; D005843:Geography; D005858:Germany; D006239:Haplotypes; D006801:Humans; D015994:Incidence; D008097:Lithuania; D009154:Mutation; D009679:Nuclear Family; D010651:Phenylalanine Hydroxylase / Q000235:genetics; D010661:Phenylketonurias / Q000453:epidemiology / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D014421:Turkey / Q000208:ethnology
chemical_list: D003062:Codon; D010651:Phenylalanine Hydroxylase