Abstract
In the last decade the search for and annotation of human genome polymorphisms associated with phenotype have become particularly important concerning the opportunity of their use in medical and population genetics, pharmacogenomics and evolutionary biology. The study was aimed to calculate the frequencies and analyze the prevalence of 13 germline polymorphisms of two genes, ТР53 encoding the genome-keeper p53 protein and WRAP53 involved in regulation of p53 production, in 28 Russian populations. We obtained data on 9 exonic ТР53 variants (rs587781663, rs17882252, rs150293825, rs112431538, rs149633775, rs144340710, rs1042522, rs1800371, rs201753350), one intronic polymorphism (rs17881850), and three variants of WRAP53 (rs17880282, rs2287499, rs34067256). In the majority of populations the sample size was over 50 people (except five populations with 30–49 surveyed people). The alternative alleles’ population frequencies for studies genetic variants in most Russian populations were close to appropriate allele frequencies in European and Asian populations of similar origin taken from global databases. The exceptions were six populations ("Central Caucasus", "Dagestan", "northern Russians", "southeastern Russians", "Tatars" and "Transcaucasia") with increased alternative alleles’ population frequencies. All listed populations except the population of “southeastern Russians” are characterized by polymorphisms with high allele frequencies not satisfying the Hardy–Weinberg principle.
Highlights
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
Calculation of alternative allele frequencies for studied markers in Russian populations Based on the genotyping of 28 Russian populations, we calculated alternative allele frequencies for nine exon ТР53 polymorphisms, one intronic ТР53 variant, as well as for three polymorphisms of exon 2 of WRAP53 gene
To test the studied markers ТР53 and WRAP53 for Hardy– Weinberg equilibrium in the population, χ2 criterion was calculated based on the existing allele ratio and the calculated in accordance with the Hardy–Weinberg principle marker population frequencies
Summary
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. Исключение составили шесть популяций («Центральный Кавказ», «Дагестан», «северные русские», «юго-восточные русские», «татары» и «Закавказье»), в которых популяционные частоты альтернативных аллелей для большинства маркеров оказались повышенными.
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