MOLECULAR-GENETIC STUDY OF THE PHENYLALANINE HYDROXYLASE GENE IN PATIENTS WITH PHENYLKETONURIA [Институт химической биологии и фундаментальной медицины]
ИХБФМ СО РАН » SB RAS Genomics Core Facility » Projects » Population genetics » MOLECULAR-GENETIC STUDY OF THE PHENYLALANINE HYDROXYLASE GENE IN PATIENTS WITH PHENYLKETONURIA
MOLECULAR-GENETIC STUDY OF THE PHENYLALANINE HYDROXYLASE GENE IN PATIENTS WITH PHENYLKETONURIA


MOLECULAR-GENETIC STUDY OF THE PHENYLALANINE HYDROXYLASE GENE IN PATIENTS WITH PHENYLKETONURIA



Phenylketonuria (PKU) is a aminoacid metabolic disorder caused by heritable phenylalanine hydroxylase activity deficiency, which is due to different mutations of either the ferment gene (classical PKU, PKU-I), or its co-factor biosynthesis pathway genes(PKU-II, PKU-III). The incidence of PKU varies widely in different human populations.

98 affected families live in Novosibirsk region.

Ireland 1:4560 England 1:14306
Belarus1:5578 USA 1:15059
Germany 1:6697 Greece 1:18460
Scotland 1:8350 Korea 1:41000
Russia 1:10000 Japan 1:80500




Aim of work: Identification of phenylalanine hydroxylase gene mutations in patients with PKU, residing in the territory of the Siberian and Far East federal district. Study of the PAH gene mutation frequency and spectrum and analysis of possible combination of PKU-causing alleles.

Applied problem : To completely rule out PKU-assosiated mutation carrier state; in the case of this carrier state to pinpoint type of PKU-assosiated mutations.

DNA samples studied: of PKU patients and members of their families:

4 families residing in the Altai territory;
5 families residing in the Sakha Republic;
15 families residing in the Far East district;
24 families residing in the Saratov region;
48 families residing in the Kemerovo region;
98 families residing in the Novosibirsk region.

In all 551 patients


Example of the genodiagnostics for the family of PAH-carriers:


The son inheriting parent «bad» genes suffer from PKU. He has heterozygous mutant genotype R408W/ INS12+1G>A. But future child doesn't have these mutations.

As a result of the studing PKU-patients there were identified PKU-I assosiated mutations including the early unknown mutations, which are very important for family planning, prenatal diagnostics and the birth of healthy children.



552392

samples have been analyzed since 2005


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