2021 / 01

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DOI: 10.24075/brsmu.2021.001

ORIGINAL RESEARCH

Analysis of 13 TP53 and WRAP53 polymorphism frequencies in russian populations

Olkova MV1, Petrushenko VS, Ponomarev GYu
About authors

1 Research Centre of Medical Genetics (RCMG), Moscow, Russia

2 Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia

Correspondence should be addressed: Marina V. Olkova
Gubkina 3, Moscow, 119991; ur.xobni@sciteneg

About paper

Funding: the study was carried out as part of the public contract between the Ministry of Science and Higher Education of the Russian Federation and the Research Centre of Medical Genetics (phenotyping of samples, database construction, data analysis).

Acknowledgement: we would like to express our appreciation to Oleg Balanovsky, head of the Genome Geography Laboratory of the Vavilov Institute of General Genetics for study management and manuscript editing, to all DNA donors and Biobank of North Eurasia for provided collection of samples, as well as to the Center for Precision Genome Editing and Genetic Technologies for Biomedicine of the Pirogov Russian National Research Medical University (Moscow, Russia) for the opportunity to use the molecular biology technologies.

Author contribution: Olkova MV — study design, statistical analysis, manuscript writing; Petrushenko VS — bioinformatics analysis, Ponomarev GYu — experiments.

Compliance with ethical standards: the study was carried out in accordance with the World Medical Association Declaration of Helsinki. All samples were obtained from Biobank of North Eurasia. The informed consent was obtained from all donors.

Received: 2020-11-26 Accepted: 2020-12-12 Published online: 2021-01-12
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Fig. Multidimensional scaling plot based on Nei's genetic distance matrix for 29 populations (Tatar and African populations were excluded from analysis due to excessively large frequency differences with the rest of populations); stress value is 0.068, and the alienation coefficient is 0.058. The populations are divided into three groups: Asian (red triangle), European (green triangle) and Caucasian (blue sign). The appropriate clusters have been distinguished: orange — Asian populations, green — European populations, blue — Caucasian populations.
Table 1. Basic data on studied markers; data obtained from ClinVar (NCBI)
Table 2. ТР53 and WRAP53 polymorphism frequencies in studied Russian populations and reference worlds’ populations
Table 3. Overlapping of marker population frequencies and assessment of Hardy–Weinberg equilibrium
Note: Hardy–Weinberg equilibrium is assessed based on the χ2 p-value (p < 0.01); orange cells — null-hypothesis for alternative allele is rejected based on the χ2 test, green cells — null-hypothesis is not rejected.