Molecular genetic characteristics of phenylketonuria in the population of Kazakhstan

Abstract

The aim of the study was to study the spectrum and identify ethnic characteristics of mutations of PAH gene in patients with PKU in Kazakhstan. The article presents the results of molecular genetic examination of 88 patients with PKU from unrelated families, including 36 patients of Kazakh nationality, 44 Russians, 5 Uighurs and 3 Uzbeks. The most frequent mutation in the PAH gene in Kazakhs was p.243Q mutation (with a frequency of 0.250), in Russians, Uighurs and Uzbeks p.R408W mutation with a frequency of 0.545, 0.400 and 0.333, respectively. Only in Kazakhs, following mutations were identified in PAH gene: IVS4 + 5G> T, IVS10-14C> G (0.028), p.V230I (0.028), p.A300S (0.014), p.W187X (0.014), p.R158Q (0.014), p.Y387H (0.014), p.I65N (0.014), p.R243L (0.014), p.Val399 = (0.014), c.326e> G (0.014), p.P119S (0.014). Mutations IVS7-3C> A and p.E390G in PAH gene were found only in Russians. For patients of Uyghur nationality, mutation p.R413P turned out to be ethnically specific; for Uzbeks, the mutations p.R261X, G188D, p.R252Q, c.826-829 ins/del4?. The results obtained allowed us to describe the spectrum and ethnic characteristics of mutations of PAH gene in Kazakhstan.