Population structure of rural settlements of Sakha Republic (Yakutia): Surname structure

The distributions of surnames have been studied in 12 rural ethnic territorial groups of Sakha Republic (Yakutia). The populations studied are characterized by considerable accumulation of individual surnames, the surname spectra of representative of different ethnic groups living in the same area substantially overlapping. The random isonymy, migration index, surname diversity, and the surname distribution redundancy index display geographic and ethnic differences. The isonymy relationship coefficients calculated for representatives of individual ethnic groups (Yakuts, Evens, and Russians) and for total populations of the settlements studied are determined by the geographic distances between the compared populations and the intensity of migrations.     

Population genetic study of differential fertility in man (illustrated by habitual abortion). IV. Distribution of blood groups and frequency of incompatible marriages

Hereditary variation of 5 immunological systems coded by 8 loci was compared in 148 couples and 100 women with repeated spontaneous abortions in anamnesis (experimental group) and 141 couples and 100 women with normal fertility (control group). Marked differences in distributions of genotypes and frequencies of 3 systems (MNSs, Rhesus, Duffy) and frequency of AB0-incompatible couples were found between control and experimental groups. An average value of observed heterozygosity in experimental group was lower, as compared to the expected value. Possible influence of immunological factors on recurrent fetal wastage is discussed.     

Genetic and demographic characteristics of rural populations of Altaĭ republic: sex-age composition, surname and tribal structure

The sex, age, tribal, and surname compositions of the populations of three villages of Altai Republic, Kulada (Ongudaisk raion), Beshpeltir (Chemal raion), and Kurmach-Baigol (Turochak raion) have been studied. Altaian populations are characterized by a high proportion of persons under 20 years of age (35.3-46.1%); however, there is a tendency towards a narrow base of the sex-age pyramid. The sex ratios in the total populations and in individual age groups are unfavorable. The rural populations studied differ in the spectrum and pattern of surname accumulation. The Kurmach-Baigol population (which consists of Northern Altaians) considerably differs from the Beshpeltir and Kulada populations (which are mostly Southern Altaian) with respect to the calculated parameters characterizing the population structure (random isonymy, migration index, the parameter of tribe diversity, entropy, and the redundancy of surname distribution). Isonymy coefficients of relationship between individual populations have been calculated from the data on tribes (surnames). These coefficients for pairs of populations are the following: for the Beshpeltir and Kulada populations, 0.3035938 (0.0000443 and 0.0000378 for the Altaian and total populations, respectively); for the Beshpeltir and Kurmach-Baigol populations, 0.0026788 (0.0000172 and 0.0000121 for the Altaian and total populations, respectively); and for the Kulada and Kurmach-Baigol populations, 0.0054811 (no common surnames have been found).     

Genetic and demographic characteristics of rural populations of Altaĭ republic: dynamics of the marriage structure

The dynamics of population marriage structure in the period from 1951 to 1997 has been studied in three villages of Altai Republic: Kulada (Ongudaisk raion), Beshpeltir (Chemal raion), and Kurmach-Baigol (Turochak raion). These populations have been found to differ from one another in the intensity and direction of migration, as well a its temporal pattern with respect to the birthplaces and ethnicity of persons contracting marriages. Periods of active incorporation of non-Altaian (mostly Slavic) ethnic components into the gene pools of the Beshpeltir and Kurmach-Baigol populations have been detected. The geographic distributions of the birthplaces of men and women contracting marriages are different. Therefore, migration has different effects on the genetic diversity of the Y-chromosomal and mitochondrial-DNA pools. No isonymic marriages have been found in the Altaian populations studied; however, an increase in the random component of inbreeding has been observed.     

ACE and AGTR1 genes polymorphisms in left ventricular hypertrophy pathogenesis in humans

The role of A2350G polymorphism in exon 17 of the ACE gene and A1166C - in 3'-UTR of the AGTR1 in the pathogenesis of left ventricular hypertrophy was studied in patients with essential hypertension (EH) and arterial hypertension combined with diabetes mellitus type 2 (AH + DM2). Patients with EH and AH + DM2 did not differ from the control sample of healthy individuals by allele or genotype frequencies. However, an association of both polymorphisms with LVH was detected in EH patients. The frequency of 1166C allele was higher in patients with LVH (33.6% vs 20.7% without LVH). A1166C polymorphism determined the magnitude of left ventricular mass index (LVMI) in EH patients as well (p = 0.007). 2350G allele frequency of the ACE gene was in 1.5, and GG genotype--in 3.5-fold higher in EH patients with LVH, as compared without LVH. LVMI was significantly higher in patients with GG genotype as compared with heterozygotes and AA homozygotes (p = 0.002). Thus the presence of 1166C allele of AGTR1 and 2350G allele of ACE can be considered as predisposing factors for LVH development in EH. In contrast, association of studied polymorphisms with presence or LVH degree was not detected in patients with arterial hypertension combined with DM2. This may indicate another structure of genetic component of predisposition to LVH in different causes.     

Population-genetical study of differential fertility in humans (based on an example of habitual abortion). I. Approach to the problem and analysis of morpho-physiological and demographic traits

It was shown that women from the studied group of married couples, suffering from repeated spontaneous abortions (the main group), have earlier menarche and their husbands are taller, as compared with the control group of couples with normal reproductive performance. The degree of similarity between mates in age and stature appeared to be lower in the main group than in the control group. The variation of the characters under study is supposed to provide an auxiliary criterion in selecting couples at high risk of repeated spontaneous abortions.     

Evolutionary ontogenetic aspects of pathogenetics of chronic human diseases

This article is a review of scientific publications, in which issues of pathogenetics of multifactorial diseases (MFDs) are considered from the viewpoint of evolution and ontogeny. Concepts explaining significance of evolutionary processes in the formation of genetic architecture of human chronic diseases (“thrifty” genomes and phenotypes, “drifty genes,” decanalization) are analyzed. The roles of natural selection and genetic drift in the formation of hereditary diversity of genes for susceptibility to MFDs are considered. The modern concept of “disease ontogeny” (somatic mosaicism, loss of heterozygosity, paradominant inheritance, epigenetic variability) is discussed. It is demonstrated that the evolutionary and ontogenetic approaches to analysis of genimuc and other “-omic” data are essential for understanding the biology of diseases.     

The population structure of rural settlements of Sakha Republic (Yakutia): Ethnic, sex, and age composition and vital statistics

The genetic demographic structure of 12 rural populations from eight uluses of Sakha Republic (Yakutia) has been analyzed. The ethnic, sex, and age composition of the population and the reproductive parameters of women that have completed and have not completed the reproductive period are reported. Crow’s indices have been estimated in representatives of three indigenous ethnic groups (Yakuts, Evens, and Evenks).     

Pickpocket1 Is an Ionotropic Molecular Sensory Transducer

The molecular transformation of an external stimulus into changes in sensory neuron activity is incompletely described. Although a number of molecules have been identified that can respond to stimuli, evidence that these molecules can transduce stimulation into useful neural activity is lacking. Here we demonstrate that pickpocket1 (ppk1), a Drosophila homolog of mammalian Degenerin/epithelial sodium channels, encodes an acid-sensing sodium channel that conducts a transient depolarizing current in multidendritic sensory neurons of Drosophila melanogaster. Stimulation of Ppk1 is sufficient to bring these sensory neurons to threshold, eliciting a burst of action potentials. The transient nature of the neural activity produced by Ppk1 activation is the result of Ppk1 channel gating properties. This model is supported by the observation of enhanced bursting activity in neurons expressing a gain of function ppk1 mutant harboring the degenerin mutation. These findings demonstrate that Ppk1 can function as an ionotropic molecular sensory transducer capable of transforming the perception of a stimulus into phasic neuronal activity in sensory neurons.     

Population demographic structure of the city of Ulan Ude: Ethnic composition and age at marriage

The marriage structure of the population of Ulan Ude, the capital of Buryat Republic, which is characterized by a mixed ethnic composition, has been studied. Differences between Ulan Ude districts in a number of genetic demographic parameters have been found. In ethnic terms, the city district populations differ from one another in the number of ethnic groups and the proportions of the largest groups (Russians and Buryats). In the total Ulan Ude population, the proportions of Russian men and women among persons contracting marriages are 71.44 and 73.79%, respectively; those of Buryat men and women are 23.36 and 22.79%, respectively. The total proportion of all other ethnic groups among both men and women contracting marriages is no more than 5.2%. The mean ages at first marriage in both indigenous and immigrant populations of Ulan Ude are relatively old; these values are 25.9 and 24.72 years for Buryat men and women and 24.86 and 22.69 for non-indigenous men and women, respectively.