Variability of anthropometric traits at birth in healthy children and children suffering from acute respiratory diseases in the first year of life

Variation of 5 anthropometric traits at birth in groups of normal children who had suffered from acute respiratory diseases during their first year of life was studied in Russian migrant and native population inhabiting the Western area of Baikal-Amur Railway. It was shown that affected children from migrant and native population had lower average values of all traits, as compared with normal children. In order to reduce the number of variable, the principal component analysis was applied. Stronger similarity was found between groups of normal children from native and migrant populations than between normal children and affected children from one population. This can be the evidence of the formation of similar adaptive norm for children from both Russian populations.     

Nonspecific inherited risk factors for acute respiratory diseases in children living in the western part of the Baikal-Amur railway

Variation of 9 polymorphic loci was compared in 2 groups of children from Russian native and migrant population of Western area of Baikal-Amur Railway--those who suffered from acute respiratory diseases during first year of life and their parents, and normal children and their parents. Frequencies of genotypes 1-1 (HP locus). 00 (ABO locus), and pp (F locus) were significantly higher in normal children than in the affected ones. Heterozygosity observed in native parents of the diseased children was lower as compared with other groups. It was possible to distinguish two groups, according to the degree of genic similarity: the first one included healthy children and their parents from migrant and native population, the second one included all affected children and their parents. Significance of association between phenotypes at 3 loci (HP, ABO, P) and predisposition of the children to acute respiratory diseases were evaluated. A conclusion was made that in children of both migrant and native Russian parents similar combinations of anthropological traits and gene markers are the factors of their nonspecific resistance to acute respiratory diseases.     

Evidence for a major gene controlling susceptibility to tegumentary leishmaniasis in a recently exposed Bolivian population.

Tegumentary leishmaniasis due to Leishmania braziliensis is a parasitic disease that occurs in two stages after the infected sandfly bite: (1) a primary cutaneous lesion followed by (2) a secondary mucosal involvement generally resulting in severe facial deformities. In order to investigate the genetic and environmental factors involved in the development of the cutaneous lesion, a familial study was performed in a region of Bolivia in which the disease is endemic. Complete selection of 118 nuclear families (703 subjects, with 241 patients), each with at least one cutaneous affected subject, was achieved; 41 families were of native origin, and 77 (herein designated "migrant") recently had settled in the area. For the analysis, the trait under study was the time to onset of the primary cutaneous lesion. The start of the follow-up was birth, for native population, or date of arrival in the endemic area, for migrant population. Segregation analysis was performed by use of a model based on survival analysis methods that allows joint estimation of genetic and environmental effects and accounts for gene x covariate interactions. A significant effect of gender, home-forest distance, and forest-related activity was found. In the 77 migrant families there was evidence for a recessive major gene controlling the onset of the primary cutaneous lesion, with residual familial dependences and age x genotype interaction. Penetrance estimations show that young subjects are genetically more susceptible than older subjects, suggesting that this genetic component could concern mechanisms involved in the development of individual protection during childhood. There was also a significant genetic heterogeneity of the sample according to the native/migrant origin of the families, and no major-gene effect was found in the native subsample.     

The origin and genetic variability of the Czech sika deer population

Sika deer (Cervus nippon), native to Asia, formed two well-established free-living populations in the Czech Republic over the last century and continue to spread. Sika are also maintained in a large number of enclosures; these continue to introduce new individuals from the places of its origin as well as from other European countries. Despite extensive research into the morphology and ethology of the Czech sika deer, conducted over the last three decades, no study using genetic methods has been done. This study aimed to determine the genetic variability and the geographic origin of the Czech sika deer population. Two mitochondrial markers, the cytochrome b and the control region were analyzed in this study. Analysis of the two markers confirmed that the founder individuals of the Czech population originated from both native island (Japanese Islands) and native mainland (Far East Russia) populations. Results showed that the genetic variability of the Czech sika deer population is lower than the variability of the native Japanese population, but higher than that of the sampled part of the native Russian population. Also, the genetic variability was found to be higher within the samples from enclosures.     

Burden of hereditary diseases in residents of the Mari El Republic]

A summary of the medical genetic studies of the Marii El population is presented. A total of 276,900 people, 110,894 and 166,006 urban and rural inhabitants, respectively, were examined. Regarding the ethnic composition, the studied population was mostly Mari (61.96%) and Russian (32.04%). Medical genetic examination revealed 480 subjects from 260 families with autosomal dominant (AD) diseases, 234 subjects from 184 families with autosomal recessive (AR) diseases, and 49 subjects from 41 families with x-linked diseases. Segregation analysis revealed a good agreement between the expected and observed segregation frequencies for families with AR and AD diseases and allowed the frequency of hereditary diseases in the urban and rural, as well as the Russian and Mari, populations, to be estimated. The total frequency of AD diseases in Maris was approximately twice as high as in Russians (1.99 and 0.97%, respectively); substantial differences between district populations were found. The total frequency of AR diseases was also two times higher in Maris than in Russians (1.00 and 0.54%, respectively). The frequencies of AR and AD diseases in different districts were correlated with the levels of random and local inbreeding, population size, and the index of maximum selection.     

Comparison of variance within and between sibships in anthropometric traits of mexican migrant and sedente families

Variance between and within sibships in anthropometric traits was ascertained in a sample of Mexican families in the U.S.A. (migrants) and in Mexico (sedentes), by sex. The factor of age was eliminated by standardization. The siblings intraclass coefficient of correlation for the various traits by means of the one-way variance analysis manifested differences between the sexes in various anthropometric traits. Variance between sibships was found to be significantly higher than within sibships in all the traits in each sex, and both migrant and sedente sibships. This result, also noted in other groups, would seem to reflect a general population phenomenon.     

Kin-structured migration and the rate of advance of an advantageous gene

Hemoglobin E, an allele generally considered to confer malarial resistance in heterozygotes, is found in high frequencies across a wide area of Southeast Asia. Apparently it originated as a single-point mutation which was spread by gene flow. The rate of diffusion of this adaptive allele is studied using four computer simulation models. It is shown that in small populations deterministic equations for gene flow may overestimate rates of diffusion. Other aspects of population structure, however, such as kin-structuring of migrant groups, increase the rate of advance. Finally, population growth coupled with the spread of the allele leads to much more rapid diffusion. These results suggest that population structure can be an important factor affecting the diffusion of advantageous genes.     

Effects of Migration on Genetic Variability and Parent–Offspring Correlation Coefficients in Anthropometric and Physiometric Phenotypes Among Three Groups of Population in Punjab, India

In the present study, we examined the migration effects on genetic variabilities and heritabilities patterns between three groups of population like parental population in Punjab, migrant from Pakistan, and migrant from other states of India in Punjab using anthropometric and physiometric traits. A total of 500 adult individuals from 300 families were studied. Statistical comparisons were carried out through mean coefficients, Student’s t test, heritability, and regression analysis. The results suggest a significant migration effect on almost all traits. Correlation coefficient for first-degree relatives, the slope factors, and heritabilities for almost all variables have been found significant among the three groups of populations. However, the discrimination is more prominent among migrant from other states of India because of more genetic heterogeneity.     

Molecular Analysis Using Mitochondrial DNA and Microsatellites to Infer the Formation Process of Japanese Native Horse Populations

To assess the genetic diversity of Japanese native horse populations, we examined seven such populations using mitochondrial DNA (mtDNA) and microsatellite analyses. Four reference populations of Mongolian horses and European breeds were employed as other equids. In the mtDNA analysis, the control region (D-loop) of 411 bp was sequenced, and 12 haplotypes with 33 variable sites were identified in the Japanese native horses. The phylogenetic tree constructed by haplogrouping and using worldwide geographic references indicated that the haplotypes of the Japanese native horses were derived from six equid clusters. Compared with the foreign populations, the Japanese native populations showed lower within-population diversity and higher between-population differentiation. Microsatellite analysis, using 27 markers, found an average number of alleles per locus of 9.6 in 318 native and foreign horses. In most native populations, the within-population diversity was lower than that observed in foreign populations. The genetic distance matrix based on allelic frequency indicated that several native populations had notably high between-population differentiation. The molecular coancestry-based genetic distance matrix revealed that the European populations were differentiated from the Japanese and Mongolian populations, and no clear groups could be identified among the Japanese native horse populations. The genetic distance matrices had few correlations with the geographic distribution of the Japanese native populations. Based on the results of both mtDNA and microsatellite analyses, it could be speculated that each native population was formed by the founder populations derived from Mongolian horses. The genetic construction of each population appears to have been derived from independent breeding in each local area since the time of population fission, and this was accompanied by drastic genetic drift in recent times. This information will help to elucidate the ancestry of Japanese native horses. An erratum to this article can be found at     

Origin of the Mongoloid component in the mitochondrial gene pool of Slavs

The data on mitochondrial DNA (mtDNA) restriction polymorphism in Czech population (n = 279) are presented. It was demonstrated that in terms of their structure, mitochondrial gene pools of Czechs and other Slavic populations (Russians, Poles, Slovenians, and Bosnians) were practically indistinguishable. In Czechs, the frequency of eastern-Eurasian (Mongoloid) mtDNA lineages constituted 1.8%. The spread of eastern-Eurasian mtDNA lineages belonging to different ethnolinguistic groups in the populations of Europe was examined. Frequency variations of these DNA lineages in different Slavic groups was observed, with the range from 1.2 and 1.6% in Southern and Western Slavs, respectively, to 1.3 to 5.2% in Eastern Slavs, the Russian population of Eastern Europe. The highest frequency of Mongoloid component was detected in the mitochondrial gene pools of Russian populations from the Russian North and the Northwestern region of Russia. This finding can be explained in terms of assimilation of northern-European Finno--Ugric populations during the formation of the Russian population of these regions. The origin of Mongoloid component in the gene pools of different groups of Slavs is discussed.     

Demographic study of one sedentary and two migrant populations of eastern India

Demographic data were collected from 185 sedentary Oraon of Gumla district of Bihar, 255 migrant Oraon, and 242 migrant Tamang households, covering a total population of 1009, 1414, and 1537 individuals, respectively. Both migrant groups were tea garden laborers working in the Birpara, Lankapara, and Tulsipara tea gardens in the Jalpaiguri district, West Bengal, India. The present study reveals that the migrant Oraon possess significantly higher fertility and (infant) mortality than the sedentary Oraons even though they are a genetically similar group. The study also reveals that the two migrant groups differ with respect to both fertility and mortality even though they inhabit similar physical and sociocultural environments.     

Association of GNB3 gene C825T polymorphism with coronary heart disease

The C825T polymorphism in the gene encoding the G protein beta 3 subunit (GNB3) causes enhanced G protein activation and the increased in vitro cell proliferation. We investigated the association of gene GNB3 C825T polymorphism with coronary artery disease (CAD) in the Russian population. A total of 313 patients with CAD diagnosed on the basis of clinical studies and coronary angyography were examined. The control group included 132 individuals that lacked clinical CAD symptoms and had matching profile of coronary artery disease risk factors. Blood pressure was measured using standard protocols. Increased levels of diastolic and systolic pressure was observed in both groups. The allele and genotype frequencies of this polimorphic marker were significantly higher in the CAD patients than in control. We found that the frequency of allele C and gen-. otype CC was significantly higher in the CAD patients (OR = 1.55; P = 0.0079; OR = 1.63; P = 0.0215, respectively), which suggests higher risk of this pathology in carriers of allele C and genotype CC. Thus, in the Russian population coronary artery disease is associated with GNB3 allele C and genotype CC.     

Gene pool structure of Russian populations from the European part of Russia inferred from the data on Y chromosome haplogroups distribution

Population structure of Russian population from the European part of Russia was investigated by analyzing the distribution of 23 SNP makers of Y chromosome in Russian populations from Kaluga, Yaroslavl’, Vladimir, Nizhni Novgorod, Pskov, Tula, Belgorod, and Novgorod oblasts. In the populations studied a total of 14 Y-chromosome haplogroups (E, F*, I, J, K*, N3a, N2, P*, R1*, R1a1, C3, G, H, and A) were discovered, of which haplogroups R1a1, I, and N3a were the prevailing. Analysis of Φ statistics in the populations grouped in accordance to the dialect subdivision of the Russian language, showed the absence of statistically significant differences between Russian population groups. Analysis of the Y-chromosome markers distribution patterns among Russian population (10 population groups) in comparison with the population of Germany (11 population groups) and Poland (8 population groups) revealed statistically significant differences between the gene pools of Slavs (Russians and Poles) and Teutons (Germans).     

Genetic differentiation in Eurasian populations of the postfire ascomycete Daldinia loculata

The genetic population structure of the postfire ascomycete Daldinia loculata was studied to test for differentiation on a continental scale. Ninety-six samples of spore families, each comprising mycelia from six to 10 spores originating from single perithecia, were sampled from one Russian and six Fennoscandian forest sites. Allelic distribution was assayed for six nuclear gene loci by restriction enzyme analyses of polymerase chain reaction (PCR)-amplified gene fragments. In addition, the full sequence of the gene fragment was analysed for a subset of haploid single-ascospore isolates in a multiallelic approach. A third data set was generated by using arbitrary-primed PCR with the core sequence of the phage M13 as primer. Although there was a reduction in heterozygosity in the total population from what would have been expected at random mating, the levels of genetic differentiation among the Eurasian subpopulations of D. loculata were low. All subpopulations were found to be in Hardy-Weinberg equilibrium and gametic equilibrium was observed between all investigated nuclear gene loci. The results obtained by the different markers were consistent; we confirmed low levels of genetic differentiation among the Eurasian subpopulations of D. loculata. The differentiation did not increase with distance; the Russian subpopulation, sampled more than 7000 km from the Fennoscandian subpopulations, was only moderately differentiated from the others (FST = 0.00-0.14). In contrast, one of the Swedish populations was the most highly differentiated from the others, with FST and GST values of 0.10-0.16. The results suggest that D. loculata consists of a long-lived background Eurasian population of latent mycelia in nonburned forests, established by sexual ascospores dispersed from scattered burned forest sites. Local differentiation is probably due to founder effects of populations in areas with low fire frequency. A tentative life cycle of D. loculata is presented.     

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.     

On the origin of Mongoloid component in the mitochondrial gene pool of Slavs

The data on mitochondrial DNA (mtDNA) restriction polymorphism in Czech population (n = 279) are presented. It was demonstrated that in terms of their structure, mitochondrial gene pools of Czechs and other Slavic populations (Russians, Poles, Slovenians, and Bosnians) were practically indistinguishable. In Czechs, the frequency of eastern-Eurasian (Mongoloid) mtDNA lineages constituted 1.8%. The spread of eastern-Eurasian mtDNA lineages belonging to different ethnolinguistic groups in the populations of Europe was examined. Frequency variations of these DNA lineages in different Slavic groups was observed, with the range from 1.2 and 1.6% in Southern and Western Slavs, respectively, to 1.3 to 5.2% in Eastern Slavs, the Russian population of Eastern Europe. The highest frequency of Mongoloid component was detected in the mitochondrial gene pools of Russian populations from the Russian North and the Northwestern region of Russia. This finding can be explained in terms of assimilation of northern-European Finno-Ugric populations during the formation of the Russian population of these regions. The origin of Mongoloid component in the gene pools of different groups of Slavs is discussed.     

Gene pool structure of Russian populations from the European part of Russia inferred from the data on Y chromosome haplogroups distribution

Population structure of Russian population from the European part of Russia was investigated by analyzing the distribution of 23 SNP makers of Y chromosome in Russian populations from Kaluga oblast, Yaroslavl' oblast, Vladimir oblast, Nizhny Novgorod oblast, Pskov oblast, Tula oblast, Belgorod oblast, and Novgorod oblast. In the populations studied a total of 14 Y-chromosome haplogroups (E, F*, I, J, K*, N3a, N2, P*, R1*, R1a1, C3, H, and A) were discovered, of which haplogroups R1a1, I, and N3a were the prevailing. Analysis of Phi statistics in the populations grouped in accordance to the dialect subdivision of the Russian language, showed the absence of statistically significant differences between Russian population groups. Analysis of the Y-chromosome markers distribution patterns among Russian population (10 population groups) in comparison with the population of Germany (11 population groups) revealed statistically significant differences between the gene pools of Slavs (Russians and Poles) and Teutons (Germans).     

引种火炬松家系的速生性和稳定性综合分析

以湿地松和马尾松为对照,对福建省引种的5年生火炬松家系生长情况进行调查分析,结果表明,引种火炬松的树高、胸径和材积的家系方差及家系与地点互作方差均达显著水平,火炬松家系在福建省的平均生长表现优于马尾松和湿地松。利用系统聚类法可将测试的25个火炬松家系分为速生、较速生、中等和较差4类,其相对于当地树种马尾松的实际增益分别为83.2%、63.4%、48.5%和33.7%。运用基因型分组法对火炬松家系的速生性和稳定性进行综合评价,最终确定19、25、18、21、10号家系为增产且变异小,具有理想基因型的稳定型家系。     

Genetic structure in fragmented populations of Solanum lycocarpum A. St.-Hil. with distinct anthropogenic histories in a Cerrado region of Brazil

Solanum lycocarpum is a woody tree widely distributed in the Cerrado that reaches high population densities in disturbed environments. We examined the genetic diversity and population differentiation of six S. lycocarpum populations with different degrees of human disturbance in order to determine if they are negatively affected by anthropogenic activity. Three populations located in southern and three located in southeastern regions of Goiás State, Central Brazil, were genotyped with five microsatellite markers. The population located in a protected area had higher number of alleles (26) than the remaining populations (19 to 21 alleles). It indicates that extensive and continuous areas of preserved native vegetation contribute positively to the conservation of genetic diversity, even with S. lycocarpum that easily adapts to disturbed environments. The three southeastern populations, although fragmented, had preserved native vegetation and were not significantly different from each other (θp = 0.002). All other population pairs compared were significantly divergent (θp varied from 0.03 to 0.11 between pairs, P < 0.05). We found three distinct sets of allele frequencies. The three southeastern populations shared similar gene pools, as well as the two disturbed southern populations, which are secondary vegetation. The southern population located in protected area had the most dissimilar gene pool. In conclusion, populations showing a higher degree of human disturbance tends to show a larger population differentiation than expected from the isolation by distance model, which in the current scenario of the Cerrado destruction points out to a threat to the long-term conservation of the species.     

Invasion genetics of the Eurasian spiny waterflea: evidence for bottlenecks and gene flow using microsatellites

The Eurasian spiny waterflea (Bythotrephes longimanus) is a predacious zooplankter that has increased its range in Europe and is rapidly invading inland water-bodies throughout North America's Great Lakes region. To examine the genetics of these invasions, we isolated five microsatellite DNA loci with between 5 and 19 alleles per locus. We sampled three populations where B. longimanus has been historically present (Switzerland, Italy, and Finland) as well as an introduced European population (the Netherlands) and three North American populations (Lakes Erie, Superior, Shebandowan). Consistent with a bottleneck during colonization (i.e. founder effect), average heterozygosities of the four European populations ranged from 0.310 to 0.599, and were higher than that of three North American populations (0.151-0.220). Pairwise F(ST) estimates among North American populations (0.002-0.063) were not significantly different from zero and were much lower than among European populations (0.208-0.474). This is consistent with a scenario of high gene flow among North American populations relative to that of European ones. Contrary to an invasion bottleneck, however, Erie and Superior populations contained similar numbers of rare alleles as European populations. Assignment tests identified several migrant genotypes in all introduced populations (the Netherlands, Erie, Superior, Shebandowan), but rarely in native ones (Switzerland, Italy and Finland). A large number of genotypes from North America were assigned to our Italian population suggesting a second, previously unidentified, invasion source somewhere in the region of northern Italy. Together, our results support an invasion bottleneck for North American populations that has been largely offset by gene flow from multiple native sources, as well as gene flow among introduced populations.