title: Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.
abstract: The codon 408 mutation (CGG----TGG, Arg----Trp) in exon 12 of the phenylalanine hydroxylase (PAH) gene occurs on haplotype 1 in French-Canadians; elsewhere this mutation (R408W) occurs on haplotype 2. A CpG dinucleotide is involved. The finding is compatible with a recurrent mutation, gene conversion, or a single recombination between haplotypes 2 and 1. A tabulation of 20 known mutations at the PAH locus reveals three instances of putative recurrent mutation.
authors.affiliation: McGill University-Montreal Children's Hospital Research Institute, Department of Biology, Quebec, Canada.
authors.forename: S W
authors.initials: SW
authors.lastname: John
authors.forename: R
authors.initials: R
authors.lastname: Rozen
authors.forename: C R
authors.initials: CR
authors.lastname: Scriver
authors.forename: R
authors.initials: R
authors.lastname: Laframboise
authors.forename: C
authors.initials: C
authors.lastname: Laberge
mesh_terms: D000483:Alleles; D001120:Arginine; D002170:Canada; D003062:Codon / Q000235:genetics; D005091:Exons; D005602:France / Q000208:ethnology; D005785:Gene Conversion; D006239:Haplotypes; D006801:Humans; D007438:Introns; D009154:Mutation; D015345:Oligonucleotide Probes; D010641:Phenotype; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic; D014364:Tryptophan
chemical_list: D003062:Codon; D015345:Oligonucleotide Probes; D014364:Tryptophan; D001120:Arginine; D010651:Phenylalanine Hydroxylase