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.
Document Type
Article
Publication Date
1990
Keywords
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
First Page
970
Last Page
974
JAX Source
Am J Hum Genet 1990 May;46(5):970-4
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.
Recommended Citation
John SW,
Rozen R,
Scriver CR,
Laframboise R,
Laberge C.
Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations. Am J Hum Genet 1990 May;46(5):970-4