Mutation spectrum of the PAH gene in phenylketonuria patients in the Karachay-Cherkess Republic (Russia)
- 作者: Gundorova P.1, Stepanova A.1, Makaov A.2, Zinchenko R.1,3,4, Abaykhanova Z.5, Polyakov A.1
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隶属关系:
- Research Centre for Medical Genetics
- Habezskaya Central District Hospital
- Pirogov Russian National Research Medical University
- Evdokimov Moscow State University of Medicine and Dentistry
- Republican Perinatal Center, Medical-Genetic Consultation
- 期: 卷 52, 编号 12 (2016)
- 页面: 1282-1290
- 栏目: Human Genetics
- URL: https://journals.rcsi.science/1022-7954/article/view/188036
- DOI: https://doi.org/10.1134/S1022795416110041
- ID: 188036
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详细
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).
作者简介
P. Gundorova
Research Centre for Medical Genetics
编辑信件的主要联系方式.
Email: p_gundorova@inbox.ru
俄罗斯联邦, Moscow, 115478
A. Stepanova
Research Centre for Medical Genetics
Email: p_gundorova@inbox.ru
俄罗斯联邦, Moscow, 115478
A. Makaov
Habezskaya Central District Hospital
Email: p_gundorova@inbox.ru
俄罗斯联邦, 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
俄罗斯联邦, Moscow, 115478; Moscow, 117997; Moscow, 127473
Z. Abaykhanova
Republican Perinatal Center, Medical-Genetic Consultation
Email: p_gundorova@inbox.ru
俄罗斯联邦, Cherkessk, Karachay-Cherkess Republic, 369000
A. Polyakov
Research Centre for Medical Genetics
Email: p_gundorova@inbox.ru
俄罗斯联邦, Moscow, 115478