Morteza Bagheri - Food and Beverages Safety Research Center, Urmia University of Medical Sciences, Urmia, Iran
Isa Abdi Rad - Food and Beverages Safety Research Center, Urmia University of Medical Sciences, Urmia, Iran
Nima Hosseini Jazani - Food and Beverages Safety Research Center, Urmia University of Medical Sciences, Urmia, Iran
Rasoul Zarrin - Food and Beverages Safety Research Center, Urmia University of Medical Sciences, Urmia, Iran
Ahad Ghazavi - Neurophysiology Research Center, Urmia University of Medical Sciences, Urmia, Iran

Objective(s):Phenylketonuria (PKU) is a genetic inborn error of phenylalanine (Phe) metabolism resulting from insufficiency in the hepatic enzyme, phenylalanine hydroxylase (PAH), which leads to elevated levels of Phe in the blood. The present study was carried out for mutation analysis of the PAH gene in West Azerbaijan province of Iran. Materials and Methods:A total of ۲۱۸ alleles from ۴۰ PKU families were studied using restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) method. Results:The frequencies of IVS۱۰-۱۱, S۶۷P, R۲۶۱Q, R۲۵۲W, IVS۱۱nt-۱ g>c, R۴۰۸Q, and Q۲۳۲Q mutations were ۲۸(۳۵), ۱۷(۲۱.۲۵), ۱۵(۱۸.۷۵), ۳(۳.۷۵), ۳(۳.۷۵), ۲(۲.۵), and ۱(۱.۲۵), in cases group, and ۵۱(۲۳.۴), ۳۱(۱۴.۲), ۲۷(۱۲.۴), ۶(۲.۷۵), ۶(۲.۷۵), ۴(۱.۸۳), and ۲(۰.۹۲) in total group, respectively. The mutations of R۲۴۳Q, ۳۶۴delG, L۳۳۳F, ۲۶۱X, I۶۵T, and R۴۰۸W were not detected in our samples. Conclusion: It can be concluded that the IVS۱۰-۱۱ mutation has the highest frequency in the tested population. To our knowledge, this report is the first in its own kind and provides better understanding of the genetic heterogeneity, the origin and distributions of PAH mutations in West Azerbaijan province of Iran.

Mutation, PAH, PKU