[Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]. / Geneticheskaia predraspolozhennost' k razvitiiu toksicheskogo twirroza pecheni, obuslovlennogo deistviem alkogolia.

Comprehensive analysis of the contribution of genetic factors into predisposition to alcoholic toxic cirrhosis (TC) was performed. The ABO, RH, HP, TF, GC, PI, ACP1, PGM1, ESD, GLO1, and GST1 genetic polymorphisms were compared in 34- to 59-year-old male TC patients and control donors of the same sex and age. The phenotypic frequencies in the TC group deviated from the theoretically expected values; the main difference was the excess of rare homozygotes for the loci GC, ACP1, ESD, and GLO1. In the TC patients, the observed heterozygosity (Ho) was considerably lower than the theoretically expected value (H(e)). Wright's fixation index (F) in the TC patients was 30 times higher than in the control group (0.0888 and 0.0027, respectively). The frequencies of PI*Z and PI*S, the PI alleles that are responsible for lower concentrations of proteinase inhibitor, were 12 and 6 times higher in the TC than in the control group. The TC patients exhibited a significantly higher frequency of the liver glutathione-S-transferase GST1*0 allele, whereas the GST1*2 frequency was two times higher in the control subjects than in the TC patients (0.2522 and 0.0953, respectively). The TC and control groups showed statistically significant differences in the frequencies of the following alleles of six independent loci: ABO*0, TF*C1, TF*C2, PI*M1, PI*Z, ACP1*C, PGM1*1+, PGM1*1-, PGM1*2-, GST1*0, and GST1*2. The haptoglobin level was significantly higher and the serum transferrin level was drastically lower in all phenotypic groups of TC patients than in control subjects. The concentrations of IgM and IgG depended on the HP, GC, and PI phenotypes. The total and direct reacting bilirubin concentrations depended on the erythrocytic-enzyme phenotypes (ACP1, PGM1, and GLO1) in both TC and control groups.

[Characteristics of the gene pool of the Gagauz population of Moldova]. / Issledovanie osobennostei genofonda gagauzov Moldavii.

Population genetic data on Gagauzes from Moldova are reported for the first time. Blood groups AB0 and Rh and biochemical markers of genes HP, TF, GC, and PGM1 were determined in 190 Gagauzes. The following allelic frequencies were determined: AB0*0, 0.5241; AB0*A, 0.3279; RH*d, 0.4571; HP*1, 0.3544; TF*C1, 0.7472; TF*C2, 0.1770; TFC3, 0.0730; TF*B, 0.0028; GC*1F, 0.1025; GC*1S, 0.5932; GC*2, 0.3043; PGM1*1+, 0.5286; PGM*1-, 0.1000; PGM1*2+, 0.2607; and PGM1*2-, 0.1107. The data obtained indicate that the gene pool of Gagauzes is similar to those of neighboring southeastern European populations.

[Genetic position of Mordvinians among other Finno-Ugrian peoples]. / Geneticheskoe polozhenie mordvy sredi drugikh finno-ugroskikh narodov.

Two different tribes of Mordvinians, Erzia and Moksha, were studied with respect to 13 different genetic marker systems. The Erzia and Moksha were shown to be fairly homogeneous; a significant gene frequency difference was found only in the MN blood group system. Estimation of the genetic distances revealed that Mordvinians showed the closest relationship to the Maris and to populations of the western Finno-Ugrian linguistic group such as Finns, Estonians and Karelians.

[Effects of maximal possible potential selection in the world population. New data on selection structure in the CIS nations]. / Osobennosti deistviia maksimal'no vozmozhnogo potentsial'nogo otbora v mirovom narodonaselenii. Novye dannye o strukture otbora v SNG.

New information on maximal possible potential selection and its component values in some ethno-territorial groups in CIS was presented. The heterogeneity observed in the Crow's index and its components can be explained as a result of the differences in the social economic status of the groups studied and the influence of climate geographical factors. The data gathered during the biodemographical study of 67 populations allowed to detect regularities of the effects of selective factors in world population: non-random and discrete nature of considered populations distribution in the coordinate space of selection components associated with differential mortality (I) and differential fertility (I) was shown. Differentiation of three big aggregations of populations was shown: urbanized contemporary communities with low I values; small endogamous populations, mostly of hunters and gatherers; small towns' populations and rural populations with balanced reproductive indices. Microevolutionary changes take place in the latter conglomerate even now, statistically subdividing it into two clusters. A proposition was made about the existence of "ecological optimum" for populations intermediate between advanced industrial communities and communities of hunters and gatherers, corresponding to the population size and the nature and rate of population reproduction.

[Genetic studies of phosphoglucomutase-1 (PGM1) subtypes: population aspects]. / Geneticheskie issledovaniia subtipov fosfogliukomutazy-1 (PGM1): populiatsionnye aspekty.

Distribution of the subtypes and gene frequencies of phosphoglucomutase-1 among some populations of Buryats, Kirghizes of the Pamir and Russians of Moscow district was analysed. The frequencies of PGM1 genes vary in Buryats being PGM1+(1) 0.647-0.743, PGM1-(1)-0.100-0.132, PGM2+(1)-0.122-0.199 and PGM2-(1)-0.007-0.037. Following frequencies of PGM1 genes were established for Kirghizes: PGM1+(1) = 0.614, PGM1-(1) = 0.114, PGM2+(1) = 0.217 and PGM2-(1) = 0.054; in Russian populations the frequencies were: PGM1+(1) = 0.578, PGM1-(1) = 0.110, PGM2+(1) = 0.253 and PGM2-(1) = 0.059. Peculiarities of PGM1 polymorphism in the USSR and all over the world were analysed. Parallel biodemographic investigations in Buryat population demonstrated differences in intensities of selection, related to concrete PGM genotypes.

[Polymorphism of alpha1-antitrypsin in Pamir populations. Reproductive compensation--possible mechanism for maintaining genetic diversity gor PI genes in human populations]. / Polimorfizm alpha1-antitripsina v populiatsiiakh Pamira. Reproduktivnaia kompensatsiia--vozmozhnyi mekhanizm podderzhaniia geneticheskogo raznoobraziia populiatsii po genam PI u cheloveka.

The distribution of the phenotype and gene frequencies of alpha 1-antitrypsin among Pamir's aborigines localized at high altitudes was studied. The Kirghizes of Murgab studied include mainly the mongoloid component in their composition. Populations of the Khuf river valley in West Pamir anthropologically belong to South caucasoids. The following frequencies of PI genes have been registered in Kirghizes (N = 102): M1 = 0.6961, M2 = 0.2108, M3 = 0.0539, Z = 0.0245, I = 0.0049, S = 0.0049, N = 0.0049; in the Khuf population (N = 122): M1 = 0.7910, M2 = 0.0943, M3 = 0.0984, Z = 0.0082, I = 0.0041, S = 0.0041; in the Pastkhuff population (N = 38): M1 = 0.7237, M2 = 0.1579, M3 = 0.1053, Z = 0.0132. A parallele biodemographic investigation in the Murgab population showed that couples, with one of the partners carrying the rare variant of PI demonstrated statistically significant increase in successful outcomes of pregnancies. The same cohort has displayed lower infant mortality rates, the absence of miscarried fetus and stillborn babies. Our results point to the possible existence of a mechanism of reproductive compensation serving to uphold the genetic diversity of PI genes.