Mutation spectrum of the PAH gene in phenylketonuria patients in the Karachay-Cherkess Republic (Russia)


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A comprehensive population and medical-genetic study was carried out in ten districts and two cities in the Karachay-Cherkess Republic (Russia). As a result, 57 patients with phenylketonuria were revealed. PAH gene genotypes for 40 probands and their diseased and healthy relatives were determined. The mutation spectrum of the PAH gene in the Karachay-Cherkess Republic was investigated. The major mutation in this region is R261X with allelic frequency of 68.4%. We elaborated a convenient system for detection of six PAH gene mutations common in the Karachay-Cherkess Republic, with the total information content of the system being 89.9%. As a result of processing the clinical data, association of the diet and phenylalanine levels in the blood was verified. Genophenotypic analysis confirms the association of the residual activity of phenylalanine hydroxylase and the severity of the disease. It is shown that common mutation R261X is severe and that patients who are homozygous for this mutation have classical phenylketonuria (PKU).

Sobre autores

P. Gundorova

Research Centre for Medical Genetics

Autor responsável pela correspondência
Email: p_gundorova@inbox.ru
Rússia, Moscow, 115478

A. Stepanova

Research Centre for Medical Genetics

Email: p_gundorova@inbox.ru
Rússia, Moscow, 115478

A. Makaov

Habezskaya Central District Hospital

Email: p_gundorova@inbox.ru
Rússia, Habez, Karachay-Cherkess Republic, 369400

R. Zinchenko

Research Centre for Medical Genetics; Pirogov Russian National Research Medical University; Evdokimov Moscow State University of Medicine and Dentistry

Email: p_gundorova@inbox.ru
Rússia, Moscow, 115478; Moscow, 117997; Moscow, 127473

Z. Abaykhanova

Republican Perinatal Center, Medical-Genetic Consultation

Email: p_gundorova@inbox.ru
Rússia, Cherkessk, Karachay-Cherkess Republic, 369000

A. Polyakov

Research Centre for Medical Genetics

Email: p_gundorova@inbox.ru
Rússia, Moscow, 115478

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