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.     

Genetic Epidemiological Study of Three District Populations in Chuvashia

Comprehensive population genetic and medical genetic studies were performed in three raions (districts) of Chuvashia. The population of these districts is more than 90% Chuvash. About 70% of the families that completed reproduction had two or three children. The proportion of families with four or more children was 18%. The duration of generation was 27.6 years. The differential fertility and differential mortality indices in the Chuvash population were estimated at 0.33 and 0.076, respectively. The total index of differential selection was 0.403, which is typical of modern urbanized populations. Mean values of local inbreeding calculated from Malecot's model of isolation by distance were 0.00124 and 0.00377 for the urban and rural populations, respectively, of the districts studied. The prevalence rates of autosomal dominant (AD), autosomal recessive (AR), and X-linked diseases were found to be 0.47, 0.52, and 0.35 per 1000, respectively, in the urban population and 1.62, 1.14, and 0.31 per 1000, respectively, in the rural population. Significant correlation between the local inbreeding and prevalence rates of AD and AR diseases was found. A total of 43 AD and 43 AR diseases were identified. Some of them were not found in previous studies on other populations.     

Genetic epidemiological study of Bashkortostan Republic: The diversity of monogenic hereditary diseases in five districts

The diversity of monogenic hereditary diseases (HDs) (autosomal dominant (AD), autosomal recessive (AR), and X-linked diseases) has been studied in five districts of Bashkortostan Republic: Burzyanskii, Abzelilovskii, Baimak, Salavatskii, and Arkhangel’skoe raions. The spectrum of HDs comprised 144 diseases, including 83, 48, and 13 AD, AR, and X-linked diseases. Most of them were found earlier during studies in ten other regions of Russia (Kirov, Kostroma, Tver’, Bryansk, and Rostov oblasts, and Krasnodar krai, and the republics of Adygea, Marii El, Udmurtia, and Chuvashia). Foci of local accumulation of some AD, AR, and X-linked diseases have been found in individual districts. Data on the gene frequencies for the HDs have been used for cluster analysis, which has shown the gene geographic position of Bashkirs among nine ethnic populations of Russia: Russians (Kostroma, Kirov, and Rostov oblasts and Krasnodar krai), Chuvashes (Chuvashia), Adygeans (Adygea), Maris (Marii El), Udmurts (Udmurtia), and Bashkirs (Bashkortostan).     

Genetic mapping of biomass yield in three interconnected Miscanthus populations

Improving biomass yield is a major goal of Miscanthus breeding. We conducted a study on one interspecific Miscanthus sinensis × Miscanthus sacchariflorus F₁ population and two intraspecific M. sinensis F₁ populations, each of which shared a common parent. A field trial was established at Urbana, IL during spring 2011, and phenotypic data were collected in 2012 and 2013 for fourteen yield traits. Six high‐density parental genetic maps, as well as a consensus genetic map integrating M. sinensis and M. sacchariflorus, were developed via the pseudotestcross strategy for noninbred parents with ≥1214 single‐nucleotide polymorphism markers generated from restriction site‐associated DNA sequencing. We confirmed for the first time a whole‐genome duplication in M. sacchariflorus relative to Sorghum bicolor, similar to that observed previously for M. sinensis. Four quantitative trait locus (QTL) analysis methods for detecting marker‐trait associations were compared: (1) individual parental map composite interval mapping analysis, (2) individual parental map stepwise analysis, (3) consensus map single‐population stepwise analysis and (4) consensus map joint‐population stepwise analysis. These four methods detected 288, 264, 133 and 109 total QTLs, which resolved into 157, 136, 106 and 86 meta‐QTLs based on QTL congruency, respectively, including a set of 59 meta‐QTLs common to all four analysis methods. Composite interval mapping and stepwise analysis co‐identified 118 meta‐QTLs across six parental maps, suggesting high reliability of stepwise regression in QTL detection. Joint‐population stepwise analysis yielded the highest resolution of QTLs compared to the other three methods across all meta‐QTLs. Strong, frequently advantageous transgressive segregation in the three populations indicated a promising future for breeding new higher‐yielding cultivars of Miscanthus.     

Genetic markers and psoriasis in three ethnic populations of Dagestan

Analysis of clinical material obtained from the individuals (49 psoriasis patients and 357 individuals without this disease) representing three ethnic populations of Dagestan (Avars, Dargins, and Kumyks) was performed. Polymorphism of the blood group loci AB0, Rhesus (RH), Kell, P, and Lewis, as well as of the protein-encoding loci for haptoglobin (HP), group-specific component (GC), and the enzymes, including glycosylase (GL01), esterase D (ESD), 6-phosphate dehydrogenase (6PDG), and acid phosphatase (ACP), was studied. It was demonstrated that in the pooled sample of Avars and Kumyks the Lewis system phenotype Le(a-b-) and the RH homozygotes (ee/ee) were statistically significantly more frequent among the psoriasis patients (P = 0.0488 and P = 0.0166, respectively), than among healthy controls of the same ethnic groups. It was suggested that for the pooled sample of Avars and Kumyks, homozygosity for the recessive RH allele (ee/ee) in combination with the Le(a-b-) phenotype, representing homozygosity for recessive allele le, was the risk factor for the development of psoriasis.     

Genetic monitoring of natural Drosophila populations in radiation contaminated regions of Belarus

Genetic monitoring of natural Drosophila melanogaster populations inhabiting regions of Belarus with different radiation background (Vetka and Svetilovichi villages), radonuclide-contaminated after the Chernobyl accident, compared with populations from the Berezinsky biosphere reserve (the control area) were conducted. The dominant and recessive lethal mutation levels and genetic structure of the populations were analyzed for frequencies of F- and S-alleles of Adh (alcohol dehydrogenase) of Gpdh (glycerinophosphate dehydrogenase) and Sod (superoxide dismutase) loci. Populations inhabiting the regions with high radiation background exhibited higher frequency of lethal mutations and higher heterozygosity than those from the control area. Moreover, higher frequency of polymorphous Sod locus S-allele was detected in these populations. Apparently, Sod S-alleles are more adaptively valuable under conditions of high radiation background, because as is known, superoxide dismutase is an effective radioprotector at all levels molecular, cellular and organism. Adaptation of populations to stress impacts was analyzed, since 1998. Nonspecific adaptation of natural Drosophila melanogaster populations from Vetka and Svetilovichi villages of Gomel region was reveled. They are higher adapted than the control population from the Berezinsky biosphere reserve to both ionizing radiation effect and to chemical mutagen EMS. After laboratory cultivation within 6-8 generations without irradiation adaptation to radiation in the population from radiocontaminated regions remained. The content of samples from the control natural drosophila population in the laboratory conditions is an environmental stress that led to the formation of nonspecific adaptation within 6-8 generations to unfavorable factors, including ionizing radiation. It should be taken into account that the population adaptation is formed via death of sensitive genotypes at various ontogenesis stages.     

Genetic diversity of three donkey populations in the Croatian coastal region

Genetic variation in three Croatian donkey populations, Istrian (IS), North Adriatic (NA) and Littoral-Dinaric (LD), was analysed using eight microsatellite loci and by sequence and SSCP analysis of the proximal portion of the mtDNA D-loop region. The analysis of microsatellite loci revealed observed heterozygosities in the range of 0.37 (MPZ002 in LD) to 0.85 (AHT21 in LD) and polymorphic information content values in the range of 0.36 (MPZ002 in NA) to 0.78 (AHT21 in LD). The overall probability of exclusion was 0.991. Two populations (IS and NA) were closely related (Fst=0.0034), whereas genetic distances between IS and LD (Fst=0.021) and NA and LD (Fst=0.027) were higher. Using AMOVA, 97.6% of the total genetic variance was portioned within populations, while 2.7% was portioned between the Littoral-Dinaric population and the Istrian/North Adriatic population group. Sequencing of the proximal part of the mtDNA D-loop region revealed 36 polymorphic sites representing 19 haplotypes which clustered into three haplotype groups (Y, W, Ws). Only the Y haplotype was found in the IS population which is characterized by a large body size. Haplotypes W and Ws were found in the NA and LD populations which include smaller animals. All three haplotypes were found in the LD population, indicating sporadic migration events from the IS into LD donkey population.     

白皮松天然群体遗传结构的地理变异分析

为探讨白皮松天然群体遗传结构在地理分布上的差异,利用7对SSR引物对5个白皮松分布区域的遗传结构进行了分析。结果表明：7对SSR引物在5个区域内476个单株中共检测到14个多态性位点。各区域间观测等位基因数（Na）、有效等位基因数（Ne）、Shannon’s 信息指数（I）、观测杂合度（Ho）、期望杂合度（He）、Nei’s期望杂合度（Nei’s）分别介于1.7143~2.1429、1.1942~1.571、0.1948~0.4954、0.1726~0.3116、0.1178~0.3325、0.1172~0.3307之间。白皮松遗传多样性水平总体较低,区域间差异较大;遗传多样性水平最高的区域为秦岭西侧群体,其次为大巴山区群体;太行山与吕梁山群体多样性水平相对较低。区域间的遗传分化系数Fst介于0.0138~0.2242之间,基因流Nm介于0.865~17.8646之间。遗传分化较大、基因流水平较低的区域均发生在秦岭西侧及其与其他区域之间。各区域间遗传相似系数在0.8416~0.9964之间,遗传相似度最高的群体为太行山与吕梁山区域,遗传距离最大的为太行山与秦岭西侧区域。白皮松多样性分布的中心主要存在于秦岭西侧和大巴山区域,因此应对该区域进行重点保护。     

Genetic polymorphisms at three loci in two populations of Manipur, India

The Phayengs and Khurkhuls are sections of the Meiteis, the largest community in Manipur, India. Racially they are Mongoloids, and marry mostly among themselves. The present study reveals the frequencies of ABO blood groups as A1 (36.54%), B (28.85%), O (25.96%) and A1B (8.65%) in the Phayengs (n = 124) and A1 (39.84%), B (21.14%), O (22.76%) and A1B (16.26 %) in the Khurkhuls (n = 123). The subtype A2 is completely absent in both. The gene frequencies are ABO*A1 = 0.262, ABO*B = 0.212 and ABO*O = 0.526 for the Phayeng and ABO*A1 = 0.334, ABO*B = 0.206, ABO*O = 0.526 among the Khurkhuls. The Phayengs show a frequency of Rh negatives as 1.92%, the frequency of the RH*d allele being 0.139. The incidence of HB E is 38.46% resulting into the frequency of HB*E = 0.266. This is the highest value so far reported from Manipur State. No Rh(D) negative individuals have been encountered among the Khurkhuls, and the incidence of HB E is 16.26%, the frequency of HB*E being 0.085.     

Genetic epidemiological study of Bashkortostan Republic: The effect of genetic structure of population on the load of monogenic hereditary diseases

Here we present the data obtained during medical genetic examination of the population of five districts of Bashkortostan Republic (Burzyanskii, Baimakskii, Abzelilovskii, Salavatskii, and Arkhangelskii) populated with 168050 persons including 135748 Bashkirs. The study involved all the population of the districts including each ethnic group and was conducted according to standard protocol developed in the Laboratory of Genetic Epidemiology, Medical Genetic Research Center, Russian Academy of Medical Sciences. Based on segregation analysis, the values of prevalence rates of the major types of Mendelian pathology (AD, AR, and X-linked diseases) was calculated in five regions of the Republic as well as for Bashkirs alone. Significant differences in the prevalence rates of AD and AR pathologies between individual districts, in particular upon division in rural and urban population, was observed. The prevalence rates comparison of monogenic hereditary pathology among Bashkirs compared to other previously examined populations have shown that the patterns of the hereditary disease load in the inspected districts of Bashkortostan were similar to that observed in the population of some districts in Udmurtia, Marii El and Chuvashiya. Russian European populations have shown significantly lower load of hereditary diseases. Correlation analysis of local inbreeding, endogamy and prevalence rates of AD and AR pathologies has shown that development of hereditary diseases load is significantly affected by gene drift.     

野生和近交稀有Ju鲫的遗传多样性

用ＲＡＰＤ技术对稀有Ｊｕ鲫近交１０代及３个野生群体的遗传多样性和群体间差异进行了研究。无论从多态位点的比例,个体间的共带率还是多样性指数来看,近交１０代的遗传多样性极低。在２２６个ＲＡＰＤ位点中,野生群体有近半数的位点是多态的,Ｓｈａｎｎｏｎ多样性指数在０．２９１１－０．３２３５间,表明自群本保持了较丰富遗传多样性。近交１０代与野生群体间遗传差异十分明显。野生群体间在１１－１９个位点上的表型频率存     

Genetic polymorphisms in three Alpine populations (Visp valleys,Switerland)

Phenotype distributions and allele frequencies of 13 blood proteins are presented for the populations of the three Visp valleys, situated in the Swiss Alps. Blood samples of a total of 883 individuals were electrophoretically analysed. The three populations were statistically compared with each other, and with an additional sample from the literature thought to be representative of the entire Swiss population. Statistical differences are revealed and genetic distances are presented. These results are interpreted in connection with differences between the Visp valleys in topological situation.     

Genetic and demographic structure of Russian populations from the Tver' and Rostov regions

Based on the data from 569 questionnaires collected in Udomlya and Ostashkov raions of Tver oblast and 436 questionnaires collected in Tsimlyansk and Dubovsk raions of Rostov oblast, genetic demographic characteristics and Crow's index for urban and rural populations of these regions were calculated. The data obtained were compared with those for other Russian populations obtained earlier.     

野生和近交稀有鮈鲫的遗传多样性

用RAPD技术对稀有鮈鲫近交10代及3个野生群体的遗传多样性和群体间差异进行了研究。无论从多态位点的比例、个体间的共带率还是从多样性指数来看,近交10代的遗传多样性极低。在226个RAPD位点中,野生群体有近半数的位点是多态的,Shannon多样性指数在0.2911～0.3235间,表明自然群体保持了较丰富的遗传多样性。近交10代与野生群体间遗传差异十分明显。野生群体间在11～19个位点上的表型频率存在显著差异,总遗传多样性的91.33%来自群体内,8.67%来自于群体间。     

Genetic and demographic characteristics of rural populations of Altai Republic: The marriage structure dynamics

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.Translated from Genetika, Vol. 41, No. 2, 2005, pp. 261–268.Original Russian Text Copyright © 2005 by Kucher, Tadinova, Puzyrev.     

东南石栎种群在演替系列群落中的遗传多样性

在浙江省天台山,利用RAPD技术对东南石栎种群演替系列群落针叶林、针阔混交林、常绿阔叶林中的遗传多样性和遗传分化进行了研究。结果表明,12个随机引物在60株个体中共检测到173个可重复位点,其中多态位点152个,总多态位点百分率为87.86%,3个种群平均多态位点百分率为65.32%。采用Shannon信息指数计算的3个种群总的遗传多样性为0.4529,平均为0.3458。采用Nei指数计算的3个种群总的基因多样性为0.3004,平均为0.2320。3个种群的多态位点百分率、Shannon信息指数、Nei指数大小顺序均为针叶林种群>针阔混交林种群>常绿阔叶林种群。AMOVA分子变异显示,72.85%变异来源于种群内,27.15%变异来源于种群间。种群间的遗传分化系数为0.2277,基因流为1.6949。东南石栎这种遗传结构是其本身生物学特性的反映,同时也与群落的微环境密切相关。3个东南石栎种群间的遗传相似度平均为0.8662,遗传距离平均为0.1442。针阔混交林种群与常绿阔叶林种群的遗传相似度最高,常绿阔叶林种群与针叶林种群最低。根据Nei的遗传距离对不同种群进行非加权成组配对法(UPGMA)聚类表明,针阔混交林种群与常绿阔叶林种群先聚合,再与针叶林种群聚在一起。     

Population genetics of hereditary diseases in the child population of the Republic of Bashkortostan, Chuvashia, and Udmurtia

The results of integrated study of the genetic structure and prevalence of monogenic hereditary diseases (MHDs) in the child population of three republics of Russia are summarized. Eight raions (districts) of the Republic of Bashkortostan and six districts of each Republic of Chuvashia and Republic of Udmurtia has been surveyed. The total population surveyed was 782184 people, with children accounting for 24.67% of them (192992 children). The loads of autosomal dominant (AD), autosomal recessive (AR), and X-linked MHDs have been calculated separately for urban and rural populations; differences between individual populations in the MHD load have been found. The differentiation of subpopulations with respect to MHD prevalence is explained by differences in the degree of subdivision. The MHD spectrum in the child population of the three republics comprises 222 disease entities, including 121 AD, 83 AR, and 18 X-linked diseases. Group of highly prevalent MHDs in regional child populations have been determined. The mean fitness of MHD patients in Bashkortostan has been calculated; it is 0.87, 0.04 and 0.16 for AD, AR, and X-linked diseases, respectively. Analysis has demonstrated that the prevalence rates of MHDs in the child populations of the republics of Chuvashia, Udmurtia, and Bashkortostan are 1, 1.2, and 1.4%, respectively.     

三个地理群体赤眼鳟遗传多样性的RAPD分析

利用RAPD技术对宿鸭湖、青龙湖和丹江口水库3个野生赤眼鳟群体的遗传多样性进行分析.9个RAPD引物共获得93个扩增位点,其中多态位点56个,多态位点比例为60.22%.3个群体的多态位点比例分别为53.01%、54.12%和57.95%,遗传距离分别为0.1548、0.1613和0.1764,Shannon信息指数分别为0.2249、0.2318和0.2437.群体间遗传距离以宿鸭湖和青龙湖群体最近(0.1257),青龙湖与丹江口水库群体最远(0.1416).结果表明3个赤眼鳟群体的遗传多样性均较丰富,但群体间地理遗传分化差异并不明显.     

黑麂（Muntiacus crinifrons）3个种群的遗传多样性

黑麂,为我国特有动物,被公认为目前世界上最珍稀的鹿科动物之一.为了更好地保护黑麂这一珍稀的濒危野生动物,基于黑麂线粒体控制区序列对遂昌分布中心的3个黑麂种群的遗传多样性和基因流进行了研究.结果显示,3个种群的36个个体中有13个变异位点,占分析序列长度的2.71%,且这13个变异位点皆为碱基置换,并未出现碱基插入或缺失的现象,并由此定义了12个单倍型.遗传多样性检测结果显示遂昌种群具有最高的遗传多样性,应予以优先保护.从Tajima′s D和Fu and Li′s D值的估算结果来看,这3个黑麂种群相对于中性进化的歧异度并没有明显的偏离(P＞0.1),没有明显的证据显示这3个黑麂种群间存在很强的平衡选择.3个种群间基因流 Nm均大于1,这3个黑麂种群间存在着较为丰富的基因流.3个黑麂种群单倍型间的序列差异为0.009,这表明这3个黑麂种群的单倍型未出现分化.