Seasonal variation in basal metabolic rates among the Yakut (Sakha) of Northeastern Siberia.

OBJECTIVES: Previous research has shown that indigenous circumpolar populations have elevated basal metabolic rates (BMRs), yet few studies have explored whether metabolic rates increase during the winter. This study addresses this gap by examining seasonal variation in BMR and its associations with thyroid function and lifestyle factors among the Yakut (Sakha) of Siberia. METHODS: Anthropometric dimensions, BMR, and thyroid hormone levels (free triiodothyronine [fT3], free thyroxine [fT4], thyroid-stimulating hormone [TSH]) were measured on two occasions (July/August, 2009 and January 2011) on a sample of 94 Yakut (Sakha) adults (35 men, 59 women) from the rural village of Berdygestiakh, Sakha Republic, Russia. RESULTS: Seasonal changes in BMR varied by age. Younger Yakut adults (19-49 years) showed significant elevations in winter-time BMR of 6% (P < 0.05), whereas older individuals (≥50 years) showed modest declines (2%; n.s.). Both younger and older Yakut men and women showed increased respiratory quotients during the winter. FT3 and fT4 levels significantly declined during the winter in both younger and older Yakut men and women (P < 0.05). Lifestyle factors were significant predictors of BMR variation, particularly among older men and women. CONCLUSIONS: Among the Yakut, increased wintertime BMR was observed among younger but not older adults, whereas all adults showed sharp reductions in free thyroid hormone levels during the winter. Among men, greater participation in subsistence activities was associated with increased BMRs and greater fat oxidation. Among women, variation in food use had the strongest impact on metabolic function.

Surnames in Siberia: a study of the population of Yakutia through isonymy.

We studied the isonymic structure of the Republic of Sakha (Yakutia), in the Russian Federation, using the surname distributions of 491,259 citizens above 18 years registered as residents in 2002. These were distributed in 35 districts and 497 towns and settlements of the Republic. The number of different surnames was 44,625. Matrices of isonymic distances between the 35 districts were tested for correlation with the geographic distance between the population centers of gravity of the districts. We found that, for the whole of Yakutia, Nei's distance was correlated with geographic distance (r = 0.693 +/- 0.027). A dendrogram of the 35 districts was built from the distance matrix, using the UPGMA method. The clusters identified by the dendrogram correlate with the geographic position of the districts. The correlation of random inbreeding calculated from isonymy, F(ST), with latitude was positive and highly significant but weak (r = 0.23). So, inbreeding was highest in the Arctic districts, and lowest in the South. Average alpha for 497 towns was 107, for 35 districts it was 311, and for the Republic 433. The value of alpha was higher for Russian than for the local languages. The geographical distribution of alpha, high in the Center and South-East and lower in the North-West, is compatible with the settlement of groups of migrants moving from the South-East toward the center and the North of Yakutia. It is proposed that low-density demic diffusion of human populations results in high inbreeding and may have been a general phenomenon in the early phases of human radiations.

A private allele ubiquitous in the Americas.

The three-wave migration hypothesis of Greenberg et al. has permeated the genetic literature on the peopling of the Americas. Greenberg et al. proposed that Na-Dene, Aleut-Eskimo and Amerind are language phyla which represent separate migrations from Asia to the Americas. We show that a unique allele at autosomal microsatellite locus D9S1120 is present in all sampled North and South American populations, including the Na-Dene and Aleut-Eskimo, and in related Western Beringian groups, at an average frequency of 31.7%. This allele was not observed in any sampled putative Asian source populations or in other worldwide populations. Neither selection nor admixture explains the distribution of this regionally specific marker. The simplest explanation for the ubiquity of this allele across the Americas is that the same founding population contributed a large fraction of ancestry to all modern Native American populations.

Genetic variation at the mitochondrial DNA 9-bp repeat locus in the Sakha of Siberia.

Genetic variation at the mitochondrial DNA 9-bp repeat locus was assayed in 779 Sakha from Siberia. Fourteen deletion (1.8%), nine triplication (1.2%), and two 4-repeat alleles (0.26%) were identified. Several of these alleles were also detected as heteroplasmies. Among the four heteroplasmic individuals identified (0.51%), three different combinations of repeat alleles were present: 1/2, 2/3, and 2/3/4 copies. Hypervariable region I (HVRI) sequencing revealed that three different sets of haplogroups were associated with the three most frequent 9-bp polymorphisms: (1) haplo-groups B, T, and W for deletions; (2) haplogroups C, D, and K for triplications; and (3) haplogroups C, D, and T for heteroplasmies. Both of the two 4-repeat alleles were associated with haplogroup D. We detected more types of 9-bp polymorphisms and more genetic variation within classes of polymorphism than previously reported for any single population. We also present the largest and most geographically diverse sampling of the Sakha population to date. No neighboring populations have been reported to carry a non-haplogroup B deletion, triplication, or heteroplasmy, suggesting that shared ancestry or admixture or both are unlikely explanations for the presence of these polymorphisms in the Sakha. The identification of high levels of variation may be a function of the large sample size and the in-depth analysis of all derived polymorphisms. Further study of the Sakha is warranted to determine whether the level of variation is unexpectedly high, especially in light of the presence of different heteroplasmies, which suggests multiple recent events.

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.

[Comparative analysis of mitochondrial DNA of Yakuts and other Asian populations].

Mitochondrial DNA of Yakuts has been compared to those of other Asian populations that belong to the Turkic, Mongolic, and Manchu-Tungusic linguistic groups. Haplogroups C and D proved to be the most frequent ones in Yakuts. In contrast to other Asian populations, subcluster D5a is major in Yakuts. The results have demonstrated that Yakuts are close to Tuvinians and Altaians in maternal lineage.

[The population gene pool of Yakutia: cartographic analysis based on the polymorphism of immune and biochemical markers].

The gene pool of the indigenous population of Sakha Republic (Yakutia) has been studied within the borders of this republic coinciding with the main area of Yakuts, which was formed by the end of the 19th century and have remained stable until the present time. Maps of the geographic variation of the integrated characteristics of the Yakut gene pool, including the principal components, parameters of genetic diversity, and genetic distances from the "average" Yakut population are presented. It has been demonstrated that ethnographers' reports on intense internal assimilation in modem Yakutia agree with genetic data. The stratification of the Yakut gene pool reflected in the maps of two principal components corresponds to the observed general (H(T)) and interpopulation (FST) gene diversities.

p53 polymorphisms in Russia and Belarus: correlation of the 2-1-1 haplotype frequency with longitude.

Four different polymorphisms in the human p53 gene (a 16-bp duplication in intron 3, and three RFLPs: for Bsh1236I at codon 72, for MspI in intron 6 and for BamHI in the 3' flanking region) and extended haplotypes were studied in nine geographically diverse populations from Russia and Belarus. The Yakuts differed from all other populations, as they had a significantly higher frequency of the BamHI A1 allele. Most populations did not differ significantly from each other in the frequency of the Bsh1236I polymorphism. The 16-bp duplication A1 allele and MspI A2 allele frequencies were significantly higher in the Yakut and Khant populations. Linkage disequilibrium values (D') between BamHI and other polymorphic sites were not significant in many cases; for this reason we have used the 16 bp-Bsh1236I-MspI haplotype frequencies only. Of eight possible haplotypes, five were observed in the populations investigated. Haplotype 1-2-2 was the most frequent in all populations. The next most common haplotype, 1-1-2, was present at very similar frequencies among the Byelorussians and Russians from Smolensk, but was more frequent in other populations. The frequency of haplotype 2-1-1 showed a nearly continuous decrease from West to East (from 17.857% among the Byelorussians to 0.685% in the Yakuts from the Verkhoyansk) and correlated with longitude (Spearman's r = -0.8667, P = 0.0025), which may be due to natural selection and adaptation. The relationships among populations were evaluated by means of Nei's D(A) distances for the 16 bp-Bsh1236I-MspI haplotype frequencies. Based on the multidimensional scaling analysis a correlation between p53 haplotype frequencies and ethnicity is supposed.

[The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia)]. / Struktura i raznoobrazie nasledstvennoi patologii v respublike sakha (Iakutiia).

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.

DNA diversity of human populations from Eastern Europe and Siberia studied by multilocus DNA fingerprinting.

We used DNA fingerprinting with M13 phage DNA as a probe to estimate the degree of genomic variability and genetic relationships in a heterogeneous group of 13 populations from Eastern Europe and Siberia. The popultaions belong to three language families: Indo-European (Slavonic: Russians, Byelorussians), Uralic (Finno-Ugric: Maris, Mordvinians, Udmurts), and Altaic (Turkic: Bashkirs, Tatars, Chuvashes, Yakuts). Multivariate statistical analyses were used (multidimensional scaling, cluster, and multiple correspondence analyses), and coefficients of gene differentiation ( Gst') were evaluated. The level of interpopulation subdivision in the various ethnic groups appeared to be different: the Byelorussian populations revealed no regional differences, in contrast to the Bashkir populations, which formed a heterogeneous group. The populations subdivided into three general clusters: Slavonic populations formed a separate tight cluster characterized by a minimal level of interpopulation diversity, Bashkir and Yakut populations formed the second cluster, and the Finno-Ugric and several populations of the Turkic linguistic groups formed the third cluster. The robustness of these results obtained by different statistical data treatments reveals that multilocus DNA fingerprinting can be reliably used for population studies.

[Differentiation of closely related and distant human populations by multilocus DNA fingerprinting]. / Differentsiatsiia blizkorodstvennykh i otdalennykh populiatsii cheloveka na osnove dannykh mul'tilokusnogo DNK-fingerprintinga.

Using multilocus DNA fingerprinting with phage M13 DNA as a probe, we have investigated a heterogeneous group of four human populations from Eastern Europe and Northeastern Asia. These populations belong to two language families: Indo-European (Eastern Slavonic branch: Russians, Belarussians) and Altaian (Turkic branch: Yakuts). The experimental results were treated by different statistical techniques: cluster analysis, multidimensional scaling, and multiple correspondence analysis. Coefficients of genetic differentiation were estimated using similarity indices and heterozygosities. The results of our study demonstrated similarity of Belarussian populations and significant differences between the group of Slavonic populations and Yakuts.

[Analysis of marital migrations in two regions in the Sakh republic (Iakutiia)]. / Analiz brachnykh migratsii v dvukh raionakh respubliki Sakha (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.

[Burden of hereditary diseases in residents of the Sakh republic (Iakutiia)]. / Gruz nasledstvennykh boleznei u naseleniia respubliki Sakha (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 the allele polymorphism of (CTG)n and (GAG)n triplet repeats in DM, DRPLA, and SCA1 genes in various populations of Russia]. / Analiz allel'nogo polimorfizma tripletnykh povtorov (CTG)n i (GAG)n v genakh DM, DRPLA i SCA1 v razlichnykh populiatsiiakh Rossii.

Polymorphism of highly polymorphic triplet repeats CTG of the 3'-untranslated region of the myotonin protein kinase gene and CAG of the genes associated with dentatorobral-pallidoluysian atrophy (DRPLA, or Hew River syndrome) and spinocerebellar ataxia type 1 (SCA1) was analyzed in several ethnic populations of Russia. A difference in allele spectra of the three genes was demonstrated for populations differing in ethnic origin.

[Ethnogenetics of yakuts from three regions of Republic of Sakha (Yakutia) inferred from the frequencies of biochemical gene markers]. / Etnogenetika iakutov iz trekh regionov Respubliki Sakha (Iakutiia) po dannym o chastotakh biokhimicheskikh markerov genov.

Comparative data on the distribution of immunological markers (AB0 and RH), serum proteins (HP, TF, GC, PI, and C3), and red cell enzymes (PGM1, ACP1, ESD, and GLO1) polymorphisms in Yakut populations from three regions of the Republic are presented. Close genetic affinities of Yakuts to Altaians, Mongols, and Buryats along with their notable difference from Evenks, Evens, and Chukchi were demonstrated.

[Genetic and demographic structure of the yakut population: reproduction indices]. / Genetiko-demograficheskaia kharakteristika iakutov: parametry reproduktsii.

Genetic and demographic information for the Yakut population living in the Republic of Sakha (Yakutia) is presented. The mean number of children per woman constituted 4.605. Crow's index and its components (Im and If) were 0.483, 0.104, and 0.343, respectively.

[Distribution of the ABO blood groups and the HP, TF, GC, PI and C3 serum proteins in Yakuts]. / Raspredelenie grupp krovi ABO i syvorotochnykh faktorov HP, TF, GC, PI i C3 u iakutov.

In Yakut populations examined, polymorphisms of immunological and serum protein markers, including AB0 and Rhesus blood groups, HP, TF, GC, PI and C3, were revealed. Gene frequencies for the systems studied fell into the following ranges: AB0 system: r, 0.514 to 0.663; p, 0.136 to 0.306; q, 0.110 to 0.337; haptoglobin HP*1: 0.214 to 0.431; transferrin TF*C: 0.700 to 1.0; group specific component GC*1: 0.821 to 0.978; PI*M1 proteinase inhibitor (or alpha 1-antitrypsin) PIM1: 0.860 to 0.946; and third component of the complement C3*F: 0.031 to 0.143.

[Genetic polymorphism of erythrocytic enzymes in Yakut populations]. / Geneticheskii polimorfizm éritrotsitarnykh fermentov v Iakutskikh populiatsiiakh.

Polymorphism of the erythrocytic enzymes PGM1, ACP1, ESD, and GLO1 was found in Yakut populations. The allelic frequencies of the polymorphic systems studied varied within the following ranges: PGM1*1+, 0.5833-0.7791; PGM1*1-, 0.0345-0.1176; PGM1*2+, 0.1250-0.2813; ACP1*A, 0.1429-0.3382; ACP1*B, 0.6548-0.8571; ESD*2, 0.1250-0.4643; and GLO1*1, 0.0116-0.2845.

[Polymorphic markers for the angiotensinogen and angiotensin-converting enzyme in Yakuts. Lack of association with blood pressure level]. / Polimorfnye markery genov angiotenzinogena i angiotenzin-prevrashchaiushchego fermenta u iakutov. Otsutstvie assotsiatsii s urovnem krovianogo davleniia.

Allele frequency distributions of the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene and the M235T polymorphism of the angiotensinogen gene was studied in a random sample of the indigenous population of the Sakha Republic. The allelic variants of these genes did not showed an association with blood pressure in Yakuts.

[Propagation of congenital anomalies of sexual development in the newborn population of Moscow]. / Izuchenie rasprostranennosti vrozhdennykh anomalii polovogo razvitiia u novorozhdennykh moskovskoi populiatsii.

The prevalence of congenital abnormalities of the genitals was estimated in newborns of the Moscow population in 1992 and 1993. The prevalence was found to be one case per 1500-1550 newborns. The pattern and structure of the observed pathology were studied. The range of patients who were not detected during the study, due to clinical peculiarities of their pathology, was estimated.