Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.
Arginine, Canada, Codon: ge, Exons, France: eh, Gene-Conversion, Haplotypes, Human, Introns, Mutation, Oligonucleotide-Probes, Phenotype, Phenylalanine-Hydroxylase: ge, Polymerase-Chain-Reaction, Polymorphism-Restriction-Fragment-Length, Recombination-Genetic, SUPPORT-NON-U-S-GOVT, Tryptophan
Am J Hum Genet 1990 May;46(5):970-4
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.
John, S W.; Rozen, R; Scriver, C R.; Laframboise, R; and Laberge, C, " Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations." (1990). Faculty Research 1990 - 1999. 113.