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Article

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

American journal of human genetics - 1 May 1990

John S W, Rozen R, Scriver C R, Laframboise R, Laberge C

Abstract excerpt

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...

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Source

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Identifiers

PMID: 1971147
PMCID: PMC1683606

Genes

PAH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.PMID 1971147Read ↗

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Recurrent mutation in the human phenylalanine hydroxylase gene.Semantic proximity Read ↗

Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.Semantic proximity Read ↗

Identification of three novel PKU mutations among Chinese: evidence for recombination or recurrent mutation at the PAH locus.Semantic proximity Read ↗

The PAH mutation analysis consortium database: update 1996.Semantic proximity Read ↗

Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.Semantic proximity Read ↗

Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling.Semantic proximity Read ↗

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.Semantic proximity Read ↗

Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec.Semantic proximity Read ↗

PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.Semantic proximity Read ↗

DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles.Semantic proximity Read ↗

CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene.Semantic proximity Read ↗

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