بررسي ملكولي PKU در جمعيت ايراني: گزارش موردي از شناسايي جهش جديد در ژن PAH در دو خانواده ايراني

Mutational analysis of phenylalanine hydroxylase gene in classical PKU patients: identification of a novel mutation in two Iranian families.

Phenylketonuria (PKU), the most common disorder of amino acid metabolism, is an autosomal recessive disease caused by mutations in the phenylalanine hydroxylase (PAH) gene. Incidence of PKU in Iran has been estimated at 1 in 3627 births. To date, hundreds of mutation 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 2 patients with classical PKU. It is a single base transversion of G to A at the second base of codon 247 in exon 7 of PAH gene. This mutation results in a Gly to Asp change in the catalytic domain of the protein.