Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations

Authors:	Byck Susan; Morgan Ken; Tyfield Linda; Dworniczak Bernd; Scriver Charles R

Affiliation:	¹DeBelle Laboratory for Biochemical Genetics, McGill University - Montreal Children's Hospital Research Institute Montreal, Quebec, Canada ²Department of Human Genetics Montreal, Quebec, Canada ³Department of Epidemiology and Biostatistics Montreal, Quebec, Canada ⁴Department of Medicine Montreal, Quebec, Canada ⁵Department of Pediatrics, McGill University Montreal, Quebec, Canada ⁶Southmead Hospital Bristol, UK ⁷Institut f $u$ r Humangenetik M $u$ nster, Germany

Abstract:	The R408W mutation in the phenylalanine hydroxylase gene (PAH)of phenylketonurla patients occurs on haplotypes 2.3 and 1.8in Europeans. The mutation involves a CpG dinucleotide; nonetheless,a single recombination event might also explain the two haplotypeassociations. By analysis of an STR in the PAH gene 5' to the408 codon and of the VNTR system in the 3' UTR, we identifiedunique features of the haplotype 1.8 chromosome harbouring theR408W mutation which are not accounted for by recombination.We conclude that recurrent mutation is the origin of R408W ondifferent PAH haplotypes in Europeans.

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