A short review represents comprehensive information in ABCC11 gene polymorphism including our own data about the distribution genotypes and alleles frequencies of ABCC11 (rs17822931) in some ethnic groups of Russia. The protein encoded by ABCC11 gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. Non-synonymous single nucleotide polymorphisms (SNP) 538G >A (rs17822931; Gly180Arg) in the ABCC11 gene determines the type of earwax in individuals has shed light on the novel function of this ABC transporter in apocrine glands. The wild-type (Gly180) of ABCC11 gene associated with wet-type earwax, axillary osmidrosis, and colostrums secretion from mammary gland as well as the potential risk of mastopathy. The SNP (538G>A) in the ABCC11 gene is suggested to be a clinical biomarker for the prediction of chemotherapeutic efficacy. The aim of this work is to study the genotypes and alleles distribution in the ethnical groups of Russia by molecular genetics methods. In the results data on the ABCC11 (rs17822931) polymorphism in three small ethnic group of Russia are represented in this study. The frequencies of ABCC11 (rs17822931) alleles (*G and *A) which determine wet and dry types of ear wax are equal were in khants population to 0,3291 and 0,6709; in nenets 0,3172 and 0,6828 (Western Siberia) and in kalmyks of the Lower Volga to 0,1620 and 0,8380 accordingly.

Analysis of DNA samples from buccal epithelium of Abkhazian residents was submitted for APOE polymorphism. The material was collected in 2013 and it was grouped according to the genetic research into two samples: a) persons of oldest age group (from 75 to 101 year); b) a control group of an average age cohort persons (from 16 to 33 years). APOE polymorphism (OMIM +107241) associated with effect of life duration in other world populations were investigated. Among many diseases which are associated with certain APOE genotypes, carriers of APOE* 4 allele are characterized by the increased risk of development of cardiovascular pathology. APOE*3 and APOE*4 allele frequencies demonstrated for Abkhazian long-livers were 0,9359 and 0,0128 respectively, while in control group these frequencies were 0,8315 and 0,0815 respectively. Distinctions between the compared cohorts concerning alleles APOE*3 and APOE*4 frequencies were significant (at x 2 > 10 and 8 respectively and P<0 ,05 ). Distinctions between the compared groups concerning genotype frequencies were also significant (x 2 = 10,072; d.f. = 5; P < 0 ,05 ). Frequencies of APOE* 2 allele were statistically similar for both samples. So the ApOe 4-4 genotype and APOE* 4 allele seem to be unfavorable for the oldest age group. On the contrary, APOE* 3 allelomorph and genotypes connected with APOE*3 are favorable factors. Our results confirmed previous observation that frequency of the «wild» genetic factors increases to the maximum in the oldest age group.

Background: It has been hypothesized that, whereas many loci are used to generate phylogenetic relationships, the utilization of those that yield the most information could increase the accuracy of any multilocus phylogenetic reconstruction. Among these is the D1S80 hypervariable minisatellite region, which has been shown to be highly polymorphic globally, and it was of interest to compare the nearest neighbours and distant populations of Eastern Europe using the D1S80 polymorphism.Aim: The study evaluated the capacity of the D1S80 locus to discriminate between populations from different ethnic groups in Russia and the Republic of Belarus, revealing the polymorphism parameters of the populations studied.Subjects and methods: Hypervariable D1S80 minisatellite polymorphism was studied in 15 populations, belonging to six distinct ethnic groups from the Russian Federation (Russians, Komis, Maris, Udmurts, Kalmyks, and Yakuts) and the Republic of Belarus (Byelorussians). The data were analysed with other results reported for D1S80 polymorphism among Eastern Europeans, and were analysed together with those previously reported for Eastern European populations for the 3'ApoB, DMPK, DRPLA, and SCA1 hypervariable loci. Genetic diversity analysis was carried out using multidimensional scaling (MDS) of Nei's genetic distances.Results: The Eastern Slavonic populations (Russians, Ukrainians, and Byelorussians) are closely associated, and outermost from populations of Asian origin (Kalmyks and Yakuts). The populations that inhabit the Volga-Ural region (Udmurt, Komi, Mari, and Bashkir ethnic groups) revealed intermediate characteristics.Conclusion: The clustering of populations demonstrated here using D1S80 alone coincides with the analysis of five hypervariable region (HVR) loci, and is consistent with linguistic, geographic, and ethnohistorical data. These results are in agreement with most studies of mtDNA, Y-chromosomal, and autosomal DNA diversity in Eastern Europe. The D1S80 locus is convenient for population analyses, and may be used as part of a set of similar markers, which should allow the easy resolution of small differences in population structures.

Apolipoprotein B 3′ (3′ ApoB) minisatellite polymorphism was studied in healthy unrelated individuals from the Russian Federation and the Republic of Belarus, in 10 populations from five ethnic groups: Russians, Byelorussians, Adygeis, Kalmyks and Yakuts. The analysis was carried out using PCR and electrophoresis followed by silver staining. Overall, 25 alleles of the 3′ ApoB minisatellite, ranging from 25 to 55 repeats, were detected. Heterozygosity indices were high and varied from 0.73 to 0.84. The distributions of alleles of this minisatellite in the Caucasoid populations (Russians, Byelorussians and Adygeis) had a bimodal character, whereas that for Mongoloid populations (Kalmyks and Yakuts) had a unimodal distribution. Nei's genetic distances between the populations studied and some reference populations of Europe and Asia were estimated. Despite their allele distribution homogeneity, different East Slavonic ethnic groups were clearly resolved by multidimensional analyses. The East Slavonic and Adygei populations revealed a high similarity with European Caucasoids. The Mongoloid populations (Kalmyks and Yakuts) were considerably different from those of the European Caucasoid populations, but were similar to other Asian Mongoloid populations. The results demonstrate the variability of 3′ ApoB minisatellite polymorphism not only in distant populations but also, to a certain extent, in genetically relative ones.

A role of genetic and environmental factors in variabilities of the levels of testosterone, estradiol, and somatotropic hormones (STH) in mountaineers of the Pamirs and Kirghizes was examined in relation to the place of residence above sea level. Testosterone and estradiol levels reduced in males and females with the altitude of their permanent residence in the studied populations. The variability in testosterone levels diminished with the altitude of locality. Blood O group (ABO system) residents of plains and low-altitude mountain regions had lower concentrations of estradiol and testosterone. With increased environmental extremeness (at 3000 and 3640 m), there was no association between steroid hormones and ABO systems. Higher variabilities in estradiol concentrations were noted in The Pamirs women. The united group of The Pamirs women showed a statistically significant increase of growth hormones in individuals with TFC1-C2 phenotype. TFC1-C2 heterozygotes are largely characterized by increased levels of STH as compared to its concentrations in TFC1-C1 homozygotes.