Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran.
OBJECTIVE
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.


METHODS
A total of 218 alleles from 40 PKU families were studied using restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) method.


RESULTS
The frequencies of IVS10-11, S67P, R261Q, R252W, IVS11nt-1 g>c, R408Q, and Q232Q mutations were 28(35), 17(21.25), 15(18.75), 3(3.75), 3(3.75), 2(2.5), and 1(1.25), in cases group, and 51(23.4), 31(14.2), 27(12.4), 6(2.75), 6(2.75), 4(1.83), and 2(0.92) in total group, respectively. The mutations of R243Q, 364delG, L333F, 261X, I65T, and R408W were not detected in our samples.


CONCLUSIONS
It can be concluded that the IVS10-11 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.
Food and Beverages Safety Research Center, Urmia University of Medical Sciences, Urmia, Iran ; Genetics Department, Urmia University of Medical Sciences, Urmia, Iran ; Cellular and Molecular Research Center, Urmia University of Medical Sciences, Urmia, Iran.
Morteza
M
Bagheri
Food and Beverages Safety Research Center, Urmia University of Medical Sciences, Urmia, Iran ; Genetics Department, Urmia University of Medical Sciences, Urmia, Iran ; Cellular and Molecular Research Center, Urmia University of Medical Sciences, Urmia, Iran.
Isa Abdi
IA
Rad
Food and Beverages Safety Research Center, Urmia University of Medical Sciences, Urmia, Iran.
Nima Hosseini
NH
Jazani
Food and Beverages Safety Research Center, Urmia University of Medical Sciences, Urmia, Iran.
Rasoul
R
Zarrin
Neurophysiology Research Center, Urmia University of Medical Sciences, Urmia, Iran.
Ahad
A
Ghazavi
Mutation; PAH; PKU