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

✍ Scribed by L. Kalaydjieva; B. Dworniczak; V. Kucinskas; V. Yurgeliavicius; E. Kunert; J. Horst

Publisher: Springer
Year: 1991
Tongue: English
Weight: 228 KB
Volume: 86
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00201847

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✦ Synopsis

Analysis of 81 phenylketonuria families from Bulgaria, Lithuania and eastern Germany demonstrated a high frequency of haplotype 2 and the associated Arg ~~ Trp 4~ 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.

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