Mutation analysis of the phenylalanine hydroxylase gene of phenylketonuria patients of Kemerovskaya oblast and Saha republic

Baturina O.A., Bondar A.A., Tupikin A.E., Zhabin S.G., Morozov I.V.

SUMMARY. Phenylketonuria (PKU) associated mutations in phenylalanine hydroxylase (PAH) gene were identi-fied by direct DNA sequencing in 46 PKU patients and members of their families from Kemerovskaya Region and Saha Republic. Mutations found included both wide spread known mutations (R158Q, R252W, R261Q, P281L, IVS10–11G>A, R408W, IVS12+1G>A) and several rare mutations (IVS2+5G>A, R155H, Y168H, W187R, E221_D222>Efs, A342T, Y386C, IVS11+1G>C). We observed the increase in diversity of PKU-associated alleles in the populations studied, probably due to their complex mixed ethnic structure.

Tsitologiya i Genetika 2012, vol. 46, no. 4, pp. 40-47

E-mail: baturina niboch.nsc.ru

Baturina O.A., Bondar A.A., Tupikin A.E., Zhabin S.G., Morozov I.V. Mutation analysis of the phenylalanine hydroxylase gene of phenylketonuria patients of Kemerovskaya oblast and Saha republic, Tsitol Genet., 2012, vol. 46, no. 4, pp. 40-47.

In "Cytology and Genetics":
O. A. Baturina, A. A. Bondar, A. E. Tupikin, S. G. Zhabin, I. V. Morozov Analysis of phenylalanine hydroxylase gene mutations in phenylketonuria patients from Kemerovo oblast and the Sakha Republic, Cytol Genet., 2012, vol. 46, no. 4, pp. 227-232
DOI: 10.3103/S0095452712040032