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© 1994 Oxford University Press

OTHER

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

Susan Byck1, Ken Morgan2,3,4, Linda Tyfield6, Bernd Dworniczak7 and Charles R. Scriver1,2,5,*

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 fur Humangenetik Munster, Germany

*To whom correspondence should be addressed at: McGill University -Montreal Children's Hospital Research Institute, 2300 Tupper Street, Montreal, Quebec H3H 1P3, Canada

Received June 17, 1994; Revised July 14, 1994; Accepted July 14, 1994

The R408W mutation in the phenylalanine hydroxylase gene (PAH) of phenylketonurla patients occurs on haplotypes 2.3 and 1.8 in Europeans. The mutation involves a CpG dinucleotide; nonetheless, a single recombination event might also explain the two haplotype associations. By analysis of an STR in the PAH gene 5' to the 408 codon and of the VNTR system in the 3' UTR, we identified unique features of the haplotype 1.8 chromosome harbouring the R408W mutation which are not accounted for by recombination. We conclude that recurrent mutation is the origin of R408W on different PAH haplotypes in Europeans.


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