Portal de Periódicos da CAPES

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

1994; Oxford University Press; Volume: 3; Issue: 9 Linguagem: Inglês

10.1093/hmg/3.9.1675

1460-2083

Susan Byck, Ken H. Morgan, Linda Tyfield, Bernd Dworniczak, C R Scriver,

Peroxisome Proliferator-Activated Receptors

The R408W mutation in the phenylalanine hydroxylase gene (PAH) of phenylketonuria 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.