ABSTRACT
Phenylketonuria [PKU] is one of the major causes of mental retardation which is caused by mutations in the phenylalanine hydroxylase [PAH] gene. Early diagnosis and timely treatment can prevent the complications of this disorder. IVS10-11G>A mutation in [PAH] gene, has been known as the major mutation in Iran, Mediterranean region and Southern Europe. The aim of this study was to determine the frequency of IVS10-11G>A mutation in Kurdish patients with PKUin Kermanshah Province and compare it with the frequencies found in the studies in other parts of Iran. From 2010 to 2011, we identified 27 unrelated families with classical PKU from different parts of Kermanshah Province. The DNA fragments containing the exon 11 of the PAH gene and its flanking intronic sequences were amplified and sequenced. The frequency of IVS10-11G>A mutation was 7.4% which was found in two homozygous PKU patients. These patients had classic PKU phenotype and their parents were 4[th] degree relatives. The findings of this study supported the results of our previous study. It seems that there is a distinct difference in PAH characters of mutations between Kermanshah and the other parts of Iran. Therefore, study of the PAH gene mutations in other parts of Iran and use of these studies for future plans, including screening of carriers are recommended