Paper Information

Journal:   BIOLOGICAL SCIENCES (DANISH-I ZISTI-I IRAN)   FALL 2008 , Volume 3 , Number 3; Page(s) 13 To 18.
 
Paper: 

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

 
 
Author(s):  ZARE KARIZI SH.*, HOSSEINI MAZINANI S.M., JAVADI GH., ZEINALI S.
 
* DEPARTMENT OF BIOLOGY, SCIENCE AND RESEARCH BRANCH, ISLAMIC AZAD UNIVERSITY, TEHRAN, IRAN
 
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.

 
Keyword(s): PHENYLKETONURIA, MUTATION PATTERN, MUTATION SPECTRUM
 
References: 
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