Literature DB >> 1971147

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

S W John1, R Rozen, C R Scriver, R Laframboise, C Laberge.   

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.

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Year:  1990        PMID： 1971147      PMCID： PMC1683606     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  27 in total

1.  The CpG dinucleotide and human genetic disease.

Authors:  D N Cooper; H Youssoufian
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

2.  Linkage disequilibrium between RFLP haplotype 2 and the affected PAH allele in PKU families from the Berlin area of the German Democratic Republic.

Authors:  O Riess; A Michel; A Speer; W Meiske; G Cobet; C Coutelle
Journal:  Hum Genet       Date:  1988-04       Impact factor: 4.132

3.  Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population.

Authors:  U Lichter-Konecki; M Schlotter; D S Konecki; S Labeit; S L Woo; F K Trefz
Journal:  Hum Genet       Date:  1988-04       Impact factor: 4.132

4.  Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.

Authors:  K J Hofman; S E Antonarakis; S Missiou-Tsangaraki; C D Boehm; D Valle
Journal:  Mol Biol Med       Date:  1989-06

5.  Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria.

Authors:  A G DiLella; J Marvit; A S Lidsky; F Güttler; S L Woo
Journal:  Nature       Date:  1986 Aug 28-Sep 3       Impact factor: 49.962

6.  GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria.

Authors:  J Marvit; A G DiLella; K Brayton; F D Ledley; K J Robson; S L Woo
Journal:  Nucleic Acids Res       Date:  1987-07-24       Impact factor: 16.971

7.  Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.

Authors:  R Chakraborty; A S Lidsky; S P Daiger; F Güttler; S Sullivan; A G Dilella; S L Woo
Journal:  Hum Genet       Date:  1987-05       Impact factor: 4.132

8.  Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.

Authors:  H Youssoufian; S E Antonarakis; W Bell; A M Griffin; H H Kazazian
Journal:  Am J Hum Genet       Date:  1988-05       Impact factor: 11.025

9.  Phenylketonuria: distribution of DNA diagnostic patterns in German families.

Authors:  C Aulehla-Scholz; M Vorgerd; E Sautter; D Leupold; R Mahlmann; K Ullrich; K Olek; J Horst
Journal:  Hum Genet       Date:  1988-04       Impact factor: 4.132

10.  Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction.

Authors:  A G DiLella; W M Huang; S L Woo
Journal:  Lancet       Date:  1988-03-05       Impact factor: 79.321
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  26 in total

1.  Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes.

Authors:  D DiSilvestre; R Koch; J Groffen
Journal:  Am J Hum Genet       Date:  1991-05       Impact factor: 11.025

2.  Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.

Authors:  P Labrune; D Melle; F Rey; M Berthelon; C Caillaud; J Rey; A Munnich; S Lyonnet
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

3.  Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene.

Authors:  B Dworniczak; L Kalaydjieva; C Aulehla-Scholz; K Ullrich; I Kremensky; B Radeva; J Horst
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

4.  Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England.

Authors:  L A Tyfield; M J Osborn; J B Holton
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

5.  More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.

Authors:  P Hechtman; F Kaplan; J Bayleran; B Boulay; E Andermann; M de Braekeleer; S Melançon; M Lambert; M Potier; R Gagné
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

Review 6.  What we know that could influence future treatment of phenylketonuria.

Authors:  C N Sarkissian; A Gámez; C R Scriver
Journal:  J Inherit Metab Dis       Date:  2008-08-03       Impact factor: 4.982

7.  Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.

Authors:  S Kleiman; L Vanagaite; J Bernstein; G Schwartz; N Brand; A Elitzur; S L Woo; Y Shiloh
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

8.  Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene.

Authors:  A A Goltsov; R C Eisensmith; D S Konecki; U Lichter-Konecki; S L Woo
Journal:  Am J Hum Genet       Date:  1992-09       Impact factor: 11.025

9.  Identification of a missense phenylketonuria mutation at codon 408 in Chinese.

Authors:  C H Lin; K J Hsiao; T F Tsai; H K Chao; T S Su
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

10.  Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

Authors:  D Phaneuf; M Lambert; R Laframboise; G Mitchell; F Lettre; R M Tanguay
Journal:  J Clin Invest       Date:  1992-10       Impact factor: 14.808
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