Analysis of marital migrations in two regions in the Sakh republic (Iakutiia)

The marital migration structure of two ouluses (administrative districts) of the Republic of Sakha (Yakutia) that have long been populated by three ethnic groups were studied on the basis of marriage records. Population genetic characteristics were calculated for each ethnic group. The ethnic assortativeness values were 30.9 in Evens, 1.36 and 4.46 in Russians, and 1.03 and 4.51 in Yakuts. The endogamy indices for the oulus and republican ethnic populations, respectively, were 0.83 and 1.0 in Evens, 0.41 and 0.99 in Yakuts, and 0.08 and 0.14 in Russians. The parameters of isolation by distance were the following: a = 0.0013 and b = 0.0020 in the Gornyi oulus; a = 0.0048 and b = 0.0014 in the Krest-Khaldzhai rural municipality; a = 0.0086 and b = 0.0095 in the Topolinoe rural municipality; and a = 0.0106 and b = 0.0013 in the Megino-Aldan rural municipality.     

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 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 the Alatyr' Raion of the Republic of Chuvashia

Population genetic characteristics were estimated in the Alatyr' raion (administrative district) of the Republic of Chuvashia, which has long been populated by three ethnic groups. The ethnic assortativeness values in the town of Alatyr' and the rural area of the district were 1.17 and 1.21, respectively, for Russians; 1.14 and 4.82, respectively, for Chuvashes; and 1.33 and 2.45, respectively, for Mordovians. Wright's statistics were as follows: F _st = 0.00358, F _it = 0.00178, and F _is = 0.00134. The migration indices were 0.0264 for Alatyr' and 0.0178 for the district. The endogamy indices for the total and the Russian populations of Alatyr' were 0.47 and 0.53, respectively. The parameters of isolation by distance were a = 0.000189 and b = 0.009591 for the urban and a = 0.000318 and b = 0.00919 for the rural area. Schemes of the genetic landscape were constructed. The influence of the polyethnic composition on the genetic structure of the population is discussed.     

The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia)

The diversity of Mendelian hereditary pathology has been studied in Sakha Republic (Yakutia). The sample comprised 1 000 700 subjects, including 363 316 Yakuts, 14 428 Evenks, 8668 Evens, 550 263 Russians, and 64 025 subjects from other ethnic groups. Fifty-one autosomal dominant (AD) diseases, including five diseases with frequencies of 1 : 50 000 or higher; 40 autosomal recessive (AR) diseases, including eight diseases with frequencies of 1 : 50 000 or higher in the Yakut population; and five X-linked diseases have been detected.     

The Structure and Diversity of Hereditary Pathology in Sakha Republic (Yakutia)

The diversity of Mendelian hereditary pathology has been studied in Sakha Republic (Yakutia). The sample comprised 1 000 700 subjects, including 363 316 Yakuts, 14 428 Evenks, 8668 Evens, 550 263 Russians, and 64 025 subjects from other ethnic groups. Fifty-one autosomal dominant (AD) diseases, including five diseases with frequencies of 1 : 50 000 or higher; 40 autosomal recessive (AR) diseases, including eight diseases with frequencies of 1 : 50 000 or higher in the Yakut population; and five X-linked diseases have been detected.     

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).     

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).     

Polymorphism of the (CTG)n Repeat of the Myotonin Protein Kinase Gene in Populations of the Sakha Republic (Yakutia) and Central Asia

The allele frequency distribution of the (CTG)_n repeat located in the 3′-terminal region of the myotonin protein kinase gene (DMPK) was compared for populations of Yakutia (three ethnogeographic groups of Yakuts, Evenks, Evens, Yukaghirs, and Dolgans) and Central Asia (Kazakhs, Uzbeks, and Uighurs) and other ethnic groups. The populations of the two regions proved to considerably differ from each other: features characteristic of Asian Mongoloids were more distinct in the populations of Yakutia, while the Central Asian populations were closer to European populations. The (CTG)_n allele spectrum of Yakuts was considered in connection with the high incidence of myotonic dystrophy in Yakutia. The results support the hypothesis of the founder effect for the spread of myotonic dystrophy in Yakuts. Data on the (CTG)_n polymorphism were used to estimate the phylogenetic relationships of the populations under study.__________Translated from Molekulyarnaya Biologiya, Vol. 39, No. 3, 2005, pp. 385–393.Original Russian Text Copyright © 2005 by Fedorova, Khusainova, Kutuev, Sukhomyasova, Nikolaeva, Kulichkin, Akhmetova, Salimova, Svyatova, Berezina, Platonov, Khusnutdinova.     

Polymorphism of pigmentation genes (<Emphasis Type="Italic">OCA2</Emphasis> and <Emphasis Type="Italic">ASIP</Emphasis>) in some populations of Russia

In Russian populations, polymorphism of two pigmentation system genes, OCA2 (loci 305, 355, and 419, tested in Russians, Buryats, Chukchi, Koryaks, and Evens) and ASIP (locus 8818, tested in Russians and Buryats) was examined. Pairwise comparisons of the F _ST distances between the populations showed that only the populations from Northeast Asia (Chukchi, Koryaks, and Evens) were statistically significantly different from all other populations, at least relative to one of the OCA2 locus. In Russians from Pskov oblast and Novgorod oblast, increased frequency (up to 6%) of the OCA2 allele 419A was revealed. In earlier studies, as association of this allele with green eye color was demonstrated. The data obtained in terms of their application for ethnic population genetics.     

Polymorphisms of DNA repair genes <Emphasis Type="Italic">ERCC</Emphasis>2 and <Emphasis Type="Italic">XRCC</Emphasis>1 in populations of Russia

We have conducted a comparative study of allele frequencies of single nucleotide polymorphisms (SNPs) rs1799793 and rs13181 of the ERCC2 gene as well as rs1799782 and rs25487 of the XRCC1 gene in population samples from European regions of Russia as well as in populations of Izhemski and Priluzski Komi and Yakuts. Significant differences in the distribution of polymorphic variants of the ERCC2 gene were demonstrated between populations of Yakuts and populations of Russians and Komi. In case of XRCC1 gene Izhemski Komi population exhibited dissimilar allele frequencies compared to other populations.     

Analysis of Reproductive Parameters of Urban and Rural Population of Chuvashia

Genetic and demographic characteristics for urban and rural population of the Chuvash Republic (Chuvashes and Russians) were calculated based on 1122 questionnaires. The sibship sizes for Chuvashes were 2.05 (urban) and 2.78 (rural). For Russians these indices were 1.75 (urban) and 2.00 (rural), respectively. Crow’s index and its components were I _m = 0.04; I _f = 0.18; and I _tot = 0.22 for urban, and I _m = 0.07; I _f = 0.27; and I _tot = 0.36 for rural Chuvashes, respectively; and I _m = 0.04; I _f = 0.30; and I _tot = 0.35 for urban, and I _m = 0.03; I _f = 0.29; and I _tot = 0.33 for rural Russians, respectively.__________Translated from Genetika, Vol. 41, No. 6, 2005, pp. 850–854.Original Russian Text Copyright © 2005 by El’chinova, Zinchenko, Kirillov, Abrukova.     

Allelic polymorphism of six microsatellite DNA Loci in populations of Sakha (Yakutia)

The allele frequency distributions of six STR loci (D3S1358, D16S539, THOI, D8S1179, LPL, and HUMvWFII) used in forensic practice were analyzed in populations of Sakha (Yakutia): three ethnogeographical groups of Sakha (Yakuts), Evenks, Yukagirs, Dolgans, and Russians. There were significant differences between Russians and all other populations by five markers. The total discriminating power (PD) of the locus system studied was assessed for each population. The interpopulation genetic difference (F _ST) was 0.005. Data on the allelic polymorphism of the above STR loci were used to analyze phylogenetic relationships among the populations of Sakha and those of other regions: East Europe, South Siberia, Chukotka, and Kamchatka.     

Burden of hereditary diseases in residents of the Sakh republic (Iakutiia)

Summarized data of medical genetic survey of the population of Republic of Sakha (Yakutia) are presented. The number of the population examined constituted 1000700 individuals (including 424500000 of urban and 576,200 of rural population, respectively). Regarding the ethnicity, 33 regions of the Republic examined were at most inhabited by Yakuts (36%) and Russians (55%). A total of 400 families (606 patients) with autosomal dominant, 274 families (369 patients) with autosomal recessive, and 42 families (53 patients) with X-linked pathologies were detected. The segregation analysis performed showed good correlation with the expected type of inheritance for both dominant and recessive diseases. The prevalence rate of monogenic hereditary diseases for rural and urban populations, as well as for solely Yakuts, was calculated. It was shown that weighted average prevalence of dominant (0.68; 1.44) and recessive (0.43; 0.86) disorders in Yakuts was two times higher than in total population examined.     

Analysis of Mitochondrial DNA Lineages in Yakuts

To study the mitochondrial gene pool structure in Yakuts, polymorphism of mtDNA hypervariable segment I (16,024–16,390) was analyzed in 191 people sampled from the indigenous population of the Sakha Republic. In total, 67 haplotypes of 14 haplogroups were detected. Most (91.6%) haplotypes belonged to haplogroups A, B, C, D, F, G, M*, and Y, which are specific for East Eurasian ethnic groups; 8.4% haplotypes represented Caucasian haplogroups H, HV1, J, T, U, and W. A high frequency of mtDNA types belonging to Asian supercluster M was peculiar for Yakuts: mtDNA types belonging to haplogroup C, D, or G and undifferentiated mtDNA types of haplogroup M (M*) accounted for 81% of all haplotypes. The highest diversity was observed for haplogroups C and D, which comprised respectively 22 (44%) and 18 (30%) haplotypes. Yakuts showed the lowest genetic diversity (H = 0.964) among all Turkic ethnic groups. Phylogenetic analysis testified to common genetic substrate of Yakuts, Mongols, and Central Asian (Kazakh, Kyrgyz, Uighur) populations. Yakuts proved to share 21 (55.5%) mtDNA haplotypes with the Central Asian ethnic groups and Mongols. Comparisons with modern Paleoasian populations (Chukcha, Itelmen, Koryaks) revealed three (8.9%) haplotypes common for Yakuts and Koryaks. The results of mtDNA analysis disagree with the hypothesis of an appreciable Paleoasian contribution to the modern Yakut gene pool.     

Haplotype analysis of oculopharyngeal muscular dystrophy (OPMD) locus in Yakutia

Oculopharyngeal muscular dystrophy (OPMD) is a hereditary neuromuscular disease with autosomal dominant and rarely with autosomal recessive inheritance types. This study included 50 patients with a clinical diagnosis of OPMD, 23 asymptomatic carriers of the mutation from 45 unrelated families, and 56 healthy relatives, as well as population samples of four ethnic groups of Yakutia: Yakuts, Evens, Evenks, Yukaghirs. It was found that the cause of OPMD development in all investigated families is the same increase in GCN repeats to 14 copies in the PABPN1 gene. The molecular structure of the (GCN)₁₄ mutant allele is (GCG)₁₀(GCA)₃GCG. The genetic variability of ten SNPs at the OPMD locus was studied in patient families and population samples. The haplotypes of OPMD were determined by a segregation analysis technique and using the EM algorithm in the groups of patients, mutation carriers, and population samples. Only one haplotype of four SNPs (ATCG) linked with the (GCN)₁₄ mutant allele was found in Yakuts and Russian patients and OPMD mutation carriers. Probably, this indicates the accumulation of mutations as a result of the founder effect.     

The Load of Hereditary Diseases in the Population of Republic of Sakha (Yakutia)

Summarized data of medical genetic survey of the population of Republic of Sakha (Yakutia) are presented. The number of the population examined constituted 1 000 700 individuals (including 424 500 of urban and 576 200 of rural population, respectively). Regarding the ethnicity, 33 regions of the Republic examined were at most inhabited by Yakuts (36%) and Russians (55%). A total of 400 families (606 patients) with autosomal dominant, 274 families (369 patients) with autosomal recessive, and 42 families (53 patients) with X-linked pathologies were detected. The segregation analysis performed showed good correlation with the expected type of inheritance for both dominant and recessive diseases. The prevalence rate of monogenic hereditary diseases for rural and urban populations, as well as for solely Yakuts, was calculated. It was shown that weighted average prevalence of dominant (0.68; 1.44) and recessive (0.43; 0.86) disorders in Yakuts was two times higher than in total population examined.     

Marriage-migration characteristics of the urban and rural populations of Udmurtia

Marriage records of six raions (districts) of Udmurtia and the city of Glazov (a total of 10518 records) have been used to calculate marriage-migration parameters. The endogamy indices of the rural and urban Udmurt populations are 0.59 (from 0.48 to 0.76 in individual districts) and 0.29, respectively, and those of the rural and urban Russian populations are 0.33 and 0.47, respectively. The mean ethnic assortativeness values are 1.05 and 0.89 for the rural and urban Udmurt populations, respectively, and 2.13 and 1.44 for the rural and urban Russian populations, respectively. The parameters of isolation by distance for the rural Udmurt population are the following: σ = 52.4, a = 0.00035, and b = 0.012; those for the urban Udmurt population are 54.1, 0.00020, and 0.010, respectively.     

Venturi aeration and thermophilic aerobic sewage sludge digestion in small-scale reactors

Summary The aeration performance of two venturi aeration reactors (operating volumes 381 and 251) was studied for an air-water system. It was found that the mass transfer coefficient (k _la) could be described in terms of the superficial gas velocity (V _s) alone by the simple expressionk _La=aV _infb ^supS with constantsa=0.313,b=0.579 for the 38-1 reactor anda=0.214,b=0.534 for the 25-1 reactor. A similar relationship was obeyed when the 38-1 reactor was aerated with a diffuser tile (a=17.0,b=1.52). A linear relationship betweenk _La and gas hold-up was observed for the 38-1 reactor with both venturi and diffuser aeration. The 25-1 reactor was used successfully for the thermophilic aerobic digestion of sewage sludge. A mean sludge temperature rise of 30°C was observed. Chemical oxygen demand, pH, and total solids content of the digested sludge differed significantly from the feed sludge and were similar to values obtained for full-scale thermophilic aerobic digestion. No significant differences between inorganic solids content, dissolved oxygen concentration, or redox potential were observed between feed and digested sludge.     

New Crystal Forms of the Motile Major Sperm Protein (MSP) ofAscaris suum

We have obtained two new crystal forms of theAscarismajor sperm protein (MSP) that mediates amoeboid cell motility in nematode sperm. We obtained crystals with C2 symmetry from bacterially expressed α-MSP witha= 216.5 Å,b= 38.6 Å,c= 32.5 Å, γ = 93.1° and also crystals with P2₁symmetry from native β-MSP witha= 63.1 Å,b= 91.7 Å,c= 72.5 Å, γ = 91.3°. A full native data set has been collected for each crystal form using synchrotron radiation. Both crystal forms diffract to 2 Å and are suitable for high-resolution structural investigation.