The heterozygosity for the biochemical and immunological markers of genes and the variability of morphophysiological traits in man

The relationship between heterozygosity of 9 biochemical and 5 blood group loci and variability of body length and age of menarche were studied in 467 women and 336 men from Moscow population. High and low levels of individual heterozygosity were shown in men to be associated with the maximal values of the coefficient of variation (CV) of body length, while in women strong positive correlation between the CV of body length and individual heterozygosity was demonstrated. The highest level of heterozygosity was revealed in medium-height men and low-height women. Highly heterozygous women were characterized either by early or by late age of menarche; early onset of menarche causes growth retardation. Positive correlation between the CV of body length and heterozygosity in women is due to the accumulation of low-height individuals having early age of menarche. The results are discussed in terms of Lerner's concept of genetic homeostasis. It is concluded that an average level of heterozygosity is optimal for a population.     

The relation between the variability of polygenic morphological and monogenic biochemical traits as exemplified by Karakul sheep

A quantitative method for investigation of relationship between polygenic and monogenic traits has been proposed. It is based on examination of relationship between frequencies of distribution classes of an adaptive quantitative trait and frequencies of certain genetic character in the same classes. The method permits to locate a gene marker within a space of quantitative trait values. Using adaptively significant morpho-anatomic traits, it is possible to estimate indirectly adaptive values of gene markers under consideration, since, in accordance with the concept of adaptive norm, "average" phenotypes have maximal fitness, whereas deviative phenotypes transgress the bounds of the optimum. As a genetical character, genotype of certain biochemical locus, individual heterozygosity range or interlocus combinations of alleles could be used. The method has been applied to newborn Astrakhan lambs. Principal component analysis has been used to obtain complex characterization for six constitutional characters. Some regularities in location of homo- and heterozygous genotypes of the transferrin locus within a space of morphological characters' values have been revealed.     

Population genetics study of differential fertility in humans (based on an example of habitual abortion). II. Distribution of genotypes and heterozygosity levels for a variety of biochemical markers

Hereditary variation of 21 blood proteins coded by 22 monomorphic and 9 polymorphic loci was compared in 171 couples and 120 women with repeated spontaneous abortions in anamnesis (experimental group) and 183 couples with normal fertility (control group). Significant elevation of frequency of rare protein electrophoretic variants, marked deviation in distribution of genotypes for polymorphic loci, alteration in observed heterozygosity level were not found in experimental group. Statistically significant decrease in average value of D index (D = (hobs-hexp)/hexp; hobs, hexp--observed and expected heterozygosity per locus) was found in women of experimental group.     

Changes in Bioenergetic Functions and Performance Capacity of Athletes after Administration of a Polyphenolic Antihypoxic Agent

A study was made of the effects of a polyphenolic antihypoxic agent on respiration in isolated mitochondria and homogenates of skeletal muscles and on the bioenergetic functions and performance capacity of runners. Polarographic analysis showed that preincubation of mitochondria isolated from skeletal muscles with the antihypoxic agent inhibited glutamate oxidation more than twofold in state 4. In homogenates of skeletal muscles, the antihypoxic agent in the presence or absence of an uncoupler strongly inhibited or slightly stimulated glutamate oxidation in the initial mitochondrial state, respectively. Thus, the antihypoxic agent inhibited mitochondrial ATPase but did not change the ATP synthase activity or exert a direct effect on the respiratory chain. The antihypoxic agent administered to runners at a concentration of about 30 mg/kg body mass 1 h prior to exercise at maximum power with a maximum duration of 1–10 min allowed higher acidification but did not affect the major bioenergetic functions such as O₂ consumption, excess CO₂ production, O₂ debt, and O₂ demand. The agent substantially increased the performance capacity of runners during exercise with a maximum duration of 3–10 min. Under competition conditions, administration of the agent to runners improved the results by 2–6% in 200- to 10000-m races.     

Allozyme polymorphism of Swiss stone pine Pinus cembra L. in mountainous populations of the Alps and the Eastern Carpathians

Swiss stone pine Pinus cembra L. is a species with fragmented range, occurring in the Alpine-East Carpathian mountain system. Seeds of P. cembra are dispersed by nutcrackers, which offers potential possibilities for gene exchange among populations. Using isozyme analysis, we have examined five samples from two parts of the Swiss stone pine range: the Alps (Switzerland and Austria) and the Carpathians (two samples from the northern macroslope of the Gorgany Ridge, Eastern Carpathians, Ivano-Frankovsk oblast and one sample from Trans-Carpathian oblast of Ukraine). The allele frequencies of 30 isozyme loci, coding for enzymes ADH, FDH, FEST, GDH, GOT, IDH, LAP, MNR, MDH, PEPCA, 6PGD, PGI, PGM, SDH, SKDH, SOD, were analyzed using cluster analysis and methods of principal components. Two clusters, corresponding to the isolated Alpine and Carpathian parts of the range, were found. The main contribution to these differences were made by loci Adh-1, Adh-2, Fest-2, Lap-3, Mdh-4, and Sod-4. The interpopulation differentiation proved to be somewhat higher than that typical for pines (F(ST) = 7.4%), but within the limits characteristic for taxonomically close species. Thus, isolation of the populations did not lead to their marked differentiation, which may be explained by gene flow and balancing selection, which equalizes gene frequencies across the fragmented species area. Interlocus F(ST) heterogeneity (from 0.003 to 0.173) suggests adaptive significance of some of the allozyme polymorphisms or linkage of some loci with adaptive genes. The Carpathian populations were shown to have higher gene diversity than the Alpine ones (expected heterozygosities 0.095-0.114 and 0.060-0.080, respectively). A deficit of heterozygotes (as compared to the Hardy-Weinberg proportions), observed in the embryo sample, was probably explained by inbreeding. The reduction in the area of Carpathian pine forests in Holocene, caused by the global climatic changes and the anthropogenic impact, is hazardous for the gene pool of the species. The maintenance of genetic uniqueness of both Carpathian populations of P. cembra in general, and individual stands in particular, requires special measures for protection of Swiss stone pine in the Eastern Carpathians.     

Far Eastern mullet Mugil soiuy Basilewsky (Mugilidae, Mugiliformes): the genetic structure of populations and its change under acclimatization

The introduction of Far Eastern mullet (pilengas) in the Azov Sea in the 1970s-1980s has resulted in the formation of a self-reproducing commercial population. We have carried out a comparative population-genetic analysis of the mullet from the native (Primorye, the Sea of Japan basin) and the new (The Azov Sea basin) ranges. Genetic characteristics of three Primorye and three Azov local samples were studied using electrophoretic analysis of 15 enzymes encoded by 21 gene loci. In the Azov mullet, the initial heterozygosity characteristic of the donor population was preserved while the genotype and the allele compositions changed; the changes included a 1.9-fold reduction in the percentage of polymorphic loci and 1.5-fold reduction in the mean number of alleles per locus. The genetic differences between the Azov and the Primorye sample groups were highly significant. In the native range, no genetic differentiation among the mullet samples from different areas was found (Gst = 0.42%), whereas in the Azov Sea basin, the samples from spatially isolated populations (ecological groups) exhibited genetic differences (Gst = 1.38). The genetic divergence of the subpopulations and the excess of heterozygotes at some loci in the Azov mullet suggest selection processes that formed genetically divergent groups associated with the areas of different salinity in the new range. The salinity level is assumed to be the most probable factor of local differentiating selection during fast adaptation and naturalization of the introduced mullet.     

Hybridization between Atlantic salmon Salmo salar L. and brown trout S. trutta l. upon artificial propagation

Samples of Salmo salar and S. trutta were examined in 12 Russian fish hatcheries. With protein markers, hybrids of the two species were found in three hatcheries of the Baltic Sea basin. Some fishes had a phenotype intermediate between the S. salar and S. trutta phenotypes by morphological traits, but did not differ genetically from one of the parental species. Possible consequences of hybridization and ways to prevent it are discussed.     

Genetic differentiation of pink salmon Oncorhynchus gorbuscha Walbaum in the Asian part of the range

Genetic variation at 19 enzyme (including 11 polymorphic) and 10 microsatellite loci was examined in the population samples of odd-and even-broodline pink salmon from the southern part of Sakhalin Island, Southern Kuril Islands, and the northern coast of the Sea of Okhotsk. The estimates of relative interpopulation component of genetic variation for the allozyme loci, per broodline, were on average 0.43% (G _ST), while over the microsatellite loci it was 0.26% (the ?_ST coefficient, F-statistics based on the allele frequency variance), and 0.90% (the ρ_ST coefficient, R-statistics based on the allele size variance). The values of interlinear component constituted 2.34, 0.31, and 1.05% of the total variation, respectively. Using the allozyme loci, statistically significant intralinear heterogeneity was demonstrated among the regions, as well as among the populations of southern Sakhalin. Multidimensional scaling based on the allozyme data demonstrated regional clustering of the sample groups, representing certain populations during the spawning run or in different years. Most of the microsatellite loci examined were found to be highly polymorphic (mean heterozygosity > 0.880). The estimates of interlinear, interregional, and interpopulation variation over these loci in terms of ?_ST values were substantially lower than in terms of ρ_ST values. Regional genetic differentiation, mostly expressed at the allozyme loci between the populations from the northern Sea of Okhotsk and the Sakhalin and Kuril group of populations, was less expressed at the microsatellite loci. The differentiation between these regions observed can be considered as the evidence in favor of a large-scale isolation by distance characterizing Asian pink salmon. It is suggested that in pink salmon, low genetic differentiation at neutral microsatellite loci can be explained by extremely high heterozygosity of the loci themselves, as well as by the migration gene exchange among the populations (the estimate of the gene migration coefficient inferred from the “private” allele data constituted 2.6 to 3.4%), specifically, by the ancient migration exchange, which occurred during postglacial colonization of the range