Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations.

A normal polymorphism at three triplet repeat loci (myotonic dystrophy (DM), dentatorubral-pallidoluysian atrophy (DRPLA) and spinocerebellar ataxia type 1 (SCA1)) were examined in healthy unrelated individuals from the Siberian Yakut (Mongoloid) population, the Adygei (Caucasian) population and nine East European populations: populations from Russia (Holmogory, Oshevensk, Kursk, Novgorod, Udmurts, Bashkir), two Ukrainian populations (Lviv and Alchevsk) and one Belarussian. The distribution of alleles for DRPLA and SCA1 were similar for all East-European populations. For the DM locus, East European populations had typical allele distribution profiles with two modes, (CTG)5 and (CTG)11-14, but some differences were found for the Bashkir population where alleles containing 11-14 CTG repeats had relatively higher frequency. The Yakut population had different allele spectra for all types of repeats studied. Higher heterozygosity levels and insignificant differences between expected and observed heterozygosity were found for all tested loci. The latter led us to suggest that the trinucleotide repeat loci analysed are not influenced by selection factors and could be useful for genetic relationship investigations in different populations.

Apolipoprotein B 3'-VNTR polymorphism in Eastern European populations.

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.

[Influence of environmental and genetic factors on levels of testosterone, estradiol and somatotropic hormones in mountaineers of the Pamir]. / Vliianie sredovykh i geneticheskikh faktorov na urovni testosterona, éstradiola i somatotrophogo gormonov u gortsev Pamira.

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.

Polymorphisms at locus D1S80 and other hypervariable regions in the analysis of Eastern European ethnic group relationships.

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.

[Methods of early detection of diabetes mellitus in children]. / Metody rannego vyiavleniia sakharnogo diabeta u detei.

The diagnostic value of a method for determination of glycosylated hemoglobin (HbA1) and glucose in the ear wax of children under risk of diabetes mellitus comparing with the efficiency of glucose tolerance test has been studied. It has been shown that the methods of constitutional anthropometry are efficient for determining the contingents of people under risk of development of diabetes mellitus at pre-clinical phase of the disease.

[Constitutional and dermatoglyphic characteristics of children with diabetes mellitus]. / Konstitutsional'no-dermatoglificheskaia kharakteristika detei s sakharnym diabetom.

A group of Russian children with clinically diagnosed diabetes mellitus were examined using a comprehensive constitutional dermatoglyphic program. Pattern asymmetry was observed in children of both sexes. On the whole the examined population was characterized by reduced incidence of loop patterns and increased incidence of double-delta patterns. In boys the incidence of arches and coils was higher and that of loops lower than in controls, in girls there were no arches and the incidence of radical and ulnar loops was low. Analysis of genetically determined signs, both anthropometric and dermatoglyphic ones, and use of other criteria will help assess the significance of these signs as markers of risk of development of type I diabetes.

[The clinico-biological aspects of transsexualism]. / Nekotorye kliniko-biologicheskie aspekty transseksualizma.

A complex constitutional-endocrinological investigation of persons of both sexes with clinical diagnosis of transsexualism (TS) has been held. On the basis of original data some peculiarities of somato- and cerebrotypes of transsexuals have been revealed, the formation of these peculiarities is significantly connected with the action of sexual hormones. A disturbance in ratio of male and female sexual hormones in the direction of predominance of the hormones corresponding to the patient's sexual autoidentification despite their biological sex has been marked. It gives possibility to consider that TS pathogenesis is undoubtedly connected with inborn pathology of hormonal homeostasis. The results of multi-disciplinary approach to study of TS are being discussed. An assumption about the role of disturbance in the system of "hormones-brain" in the TS origin is given.