Molecular genetics of PKU in Eastern Europe

A nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene

Tao Wang, Yoshiyuki Okano, Randy C. Eisensmith, G. Fekete, D. Schuler, G. Berencsi, Istvan Nasz, Savio L C Woo

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Phenylketonuria (PKU) is a genetic disorder secondary to a deficiency of hepatic phenyalanine hydroxylase (PAH). Several mutations in the PAH gene have recently been reported, and linkage disequilibrium was observed between RFLP haplotypes and specific mutations. A new molecular lesion has been identified in exon 7 of the PAH gene in a Hungarian PKU patient by direct sequencing of PCR-amplified DNA. The C-to-T transition causes the substitution of Arg243 to a termination codon, and the mutant allele is associated with haplotype 4 of the PAH gene. The mutation is present in two of nine mutant haplotype 4 alleles among Eastern Europeans and is not present among Western Europeans and Asians. The rarity of this mutant allele and its restricted geographic distribution suggest that the mutational event occurred recently on a normal haplotype 4 background in Eastern Europe.

Original languageEnglish
Pages (from-to)85-90
Number of pages6
JournalSomatic Cell and Molecular Genetics
Volume16
Issue number1
DOIs
Publication statusPublished - Jan 1990

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Phenylalanine Hydroxylase
Eastern Europe
Phenylketonurias
Nonsense Codon
Mixed Function Oxygenases
Haplotypes
Molecular Biology
Alleles
Mutation
Genes
Inborn Genetic Diseases
Terminator Codon
Linkage Disequilibrium
Restriction Fragment Length Polymorphisms
Exons
Polymerase Chain Reaction
Liver
DNA

ASJC Scopus subject areas

  • Genetics
  • Cell Biology

Cite this

Molecular genetics of PKU in Eastern Europe : A nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene. / Wang, Tao; Okano, Yoshiyuki; Eisensmith, Randy C.; Fekete, G.; Schuler, D.; Berencsi, G.; Nasz, Istvan; Woo, Savio L C.

In: Somatic Cell and Molecular Genetics, Vol. 16, No. 1, 01.1990, p. 85-90.

Research output: Contribution to journalArticle

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