[Haplotype analysis of PvuII[a]-MspI-VNTR markers in PAH gene in Isfehan population]

In this study, PvuII[a], Mspi and variable number of tandem repeat [VNTR] markers at the phenylalanine hydroxylase [PAH] gene region were genotyped in 100 unrelated individuals and 20 families from Iranian population. The allele frequency, observed heterozygosity and frequency of PvuII[a]-MspI-VNTR haplotype was estimated, Among the estimated haplotypes by use of FBAT program, eight haplotypes were introduced as informative haplotypes at the PAH gene region in the population studied, which could be used in carrier detection of phenylketonurai [PKU]