Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations |
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Authors: | Byck Susan; Morgan Ken; Tyfield Linda; Dworniczak Bernd; Scriver Charles R |
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Institution: | 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 fr Humangenetik Mnster, Germany |
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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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