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Information Journal Paper

Title

IDENTIFICATION OF NEW MUTATION OF L194R IN PHENYLALANINE HYDROXYLASE GENE (PAH) IN IRANIAN POPULATION

Pages

  13-18

Abstract

PHENYLKETONURIA (PKU), the most common disorder of amino acid metabolism, is an autosomal recessive disease caused by mutations in the phenylalanine hydroxylase (PAH) gene. The incidence of PKU in Iran has been estimated at 1 in 3627 live births. To date, hundreds of mutations leading to PKU have been identified in the PAH gene. The spectrum of these mutations differs among different populations. In the present study, a novel mutation has been identified- during the mutational screening of the PAH gene in 150 Iranian families- in the human phenylalanine hydroxylase gene of a patient with classical PKU. It is a single base transversion of T to G at the second base of codon 194 in exon 6 of PAH gene. This mutation results in a Leu to Arg change in the catalytic domain of the protein.

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