Hum Genet. 1991 Feb;86(4):411-3.

Geographical distribution gradients of the major PKU mutations and the linked haplotypes.

Kalaydjieva L, Dworniczak B, Kucinskas V, Yurgeliavicius V, Kunert E, Horst J.

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Laboratory of Molecular Pathology, Medical Academy, Institute of Obstetrics, Sofia, Bulgaria.

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.

PMID:: 1671852; [PubMed - indexed for MEDLINE]

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The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria. [Hum Genet. 1991]
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Jaruzelska J, Henriksen KF, Güttler F, Riess O, Borski K, Blin N, Slomski R. Hum Genet. 1991 Jan; 86(3):247-50.
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Cited by 3 PubMed Central articles

Genetic background of clinical homogeneity of phenylketonuria in Poland. [J Med Genet. 1993]
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Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans. [Am J Hum Genet. 1995]
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