Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.
basic_science · Level V
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- Record sourced from PubMed, PMID 1971147.
- Also identified by PMC identifier 1683606.
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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.
Medical subject headings
- Gene Conversion
- Mutation
- Phenylalanine Hydroxylase
- Recombination, Genetic