The status of PAH gene-VNTR alleles and mini-haplotypes associations with PAH gene mutations in Iranian Kurdish PKU patients

Abstract

↑What is "already known" in this topic: • Some believe that Iranian population is one of the most heterogeneous populations of the world. • VNTR-STR mini-haplotypes in the PAH gene are highly informative for mutation analysis, including prenatal diagnosis phenylketonuria. →What this article adds: • This study evaluated the frequencies of the PAH-gene-VNTR alleles for the first time in healthy controls in Kermanshah province and confirmed a high degree of heterogeneity among this population. • This was the first report of association of VNTR-STR minihaplotypes and PAH gene mutations in Iranian Kurdish PKU patients.