Faculty Research 1990 - 1999


Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.

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Publication Date



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

JAX Source

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.

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