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The prevalence of DNA base excision repair gene variants among the Eastern Khants population
https://doi.org/10.25557/2073-7998.2024.10.30-37
Abstract
Background. The healthcare has the priority importance for the Northern Eurasia indigenous populations survival. The organism viability largely depends on the availability of effective protective systems against adverse factors. The one is 8-oxoguanine DNA glycosylase (OGG1) which help to resist against the adverse effects of oxidative stress.
The human OGG1 gene has coding sequence variations which may differ in different ethnic groups. The Ser326Cys mutation reduces the effectiveness of the DNA repair function and it causes an increased risk of carcinogenesis and some other adverse health consequences.
Objective: to estimate the prevalence OGG1 gene variants among the indigenous Khants population and to compare it with different ethnic groups worldwide.
Methods. The sample of Eastern Khants consisted of 103 indigenous inhabitants of the Khanty-Mansiysk Autonomous Okrug. OGG1 gene Ser326Cys polymorphism genotyping (rs1052133) was performed using the ARMS-PCR-RFLP method.
Results. The frequency stated for Ser/Ser genotype was 47.6%, Ser/Cys = 36.9 % and Cys/Cys = 15.5% in the Khants population. Frequency of the OGG1 allele*C (Ser) was equal to 0.66, and OGG1*G (Cys) reached the value of 0.34. .
Conclusion. The results of the study provide new population-genetic information on the prevalence of variants of the OGG1 gene. The frequencies of the rs1052133 alleles in the Khants population were close to the global average values.
Supporting agencies: The study has been funded by the state assignment of the Ministry of Science and Higher Education of the Russian Federation
About the Authors
S. V. Makarov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Sergey V. Makarov
1, Moskvorechye st., Moscow, 115522
V. A. Spitsyn
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
N. Kh. Spitsyna
Centre for Physical Anthropology, Miklukho-Maclay Institute of Ethnology and Anthropology Russian Academy of Sciences
Russian Federation
Russian Federation
32A, Leninsky Prospekt, Moscow, 119334
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Review
For citations:
Makarov S.V., Spitsyn V.A., Spitsyna N.Kh. The prevalence of DNA base excision repair gene variants among the Eastern Khants population. Medical Genetics. 2024;23(10):30-37. (In Russ.) https://doi.org/10.25557/2073-7998.2024.10.30-37
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