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- Title
The carrier rate of the phenylalanine hydoxylase gene ( PAH) mutations p.Arg408Trp, pArg261Gln, and p.Arg261X in the populations of Eurasia.
- Authors
Akhmetova, V.; Khusainova, R.; Litvinov, S.; Khusnutdinova, E.
- Abstract
Analysis of the carrier frequency of p.Arg408Trp, p.Arg261Gln, and p.Arg261X mutations in the PAH gene was carried out in different unrelated indigenous individuals representing 58 populations of Eurasia taking into account their linguistic identity and territorial location. Mutation p.Arg408Trp in the PAH gene was found in 14 studied populations with the highest average carrier frequency of 0.0127 in the Volga-Ural region and 0.0134 in the representatives of the Slavic language group. Mutation p.Arg261Gln in the PAH gene was detected only in two populations with average carrier frequency rate of 0.0012 in the Volga-Ural region. Mutation p.Arg261X in the PAH gene was identified in four North Caucasus populations with highest carrier frequency in Karachays-at 0.0526. All PAH gene mutations in populations of Eurasia were identified in the heterozygous state.
- Subjects
EURASIA; PHENYLALANINE hydroxylase; GENETIC mutation; PHENYLKETONURIA; GENE frequency; DISEASE incidence
- Publication
Russian Journal of Genetics, 2017, Vol 53, Issue 8, p910
- ISSN
1022-7954
- Publication type
Article
- DOI
10.1134/S1022795417060023