RECURRENT MUTATION, GENE CONVERSION, OR RECOMBINATION AT THE HUMAN PHENYLALANINE-HYDROXYLASE LOCUS - EVIDENCE IN FRENCH-CANADIANS AND A CATALOG OF MUTATIONS
- 1 May 1990
- journal article
- research article
- Vol. 46 (5) , 970-974
Abstract
The codon 408 mutation (CGG .fwdarw. TGG, Arg .fwdarw. 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.This publication has 27 references indexed in Scilit:
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