<p>Blue circles show ALDER-inferred point estimates and error bars indicate 95% confidence ... more <p>Blue circles show ALDER-inferred point estimates and error bars indicate 95% confidence intervals. Gray circles show SPCO-inferred point estimates and error bars in gray indicate 95% confidence intervals. The red bar shows the point estimate range (inferred using ALDER) across all the analyzed samples and the orange bar shows the same for SPCO-inferred dates. Admixture dates before Common Era (CE) are shown with a negative sign.</p
List of samples included in "Extended" dataset. Table S1b List of samples included in &... more List of samples included in "Extended" dataset. Table S1b List of samples included in "Core" dataset. Table S1c List of samples included in "Ancient" dataset. Table S2 Results of ADMIXTURE for K = 9. Table S3 Results of ADMIXTURE for K = 6, 7, 8. Table S4 Results of f3 test. Table S5 Results of IBD sharing analysis in 1–3 cM and 4–10 cM bins. Table S6 Total amount of shared IBD between populations. Table S7 Standard residue of linear regression analysis of distance-IBD sharing. Table S8 Distance and shared IBD between pairs of populations. Table S9: Results of f3 outgroup test with ancient samples. (XLSX 482 kb)
The history of human populations occupying the plains and mountain ridges separating Europe from ... more The history of human populations occupying the plains and mountain ridges separating Europe from Asia has been eventful, as these natural obstacles were crossed westward by multiple waves of Turkic and Uralic-speaking migrants as well as eastward by Europeans. Unfortunately, the material records of history of this region are not dense enough to reconstruct details of population history. These considerations stimulate growing interest to obtain a genetic picture of the demographic history of migrations and admixture in Northern Eurasia. We genotyped and analyzed 1076 individuals from 30 populations with geographical coverage spanning from Baltic Sea to Baikal Lake. Our dense sampling allowed us to describe in detail the population structure, provide insight into genomic history of numerous European and Asian populations, and significantly increase quantity of genetic data available for modern populations in region of North Eurasia. Our study doubles the amount of genome-wide profiles...
ABSTRACT We studied the molecular basis of NSHL in the Volga-Ural region. The Volga–Ural region o... more ABSTRACT We studied the molecular basis of NSHL in the Volga-Ural region. The Volga–Ural region of Russia is of particular interest, because its ethnic populations mostly belong to the Turkic, Finno-Ugric, and Slavonic linguistic groups and have complex ethnogenesis and combine the Caucasian and Mongoloid components in various proportions. A total number of 100 patients of Tatars, Russian or mixed ethnicity and 768 population samples were analyzed by PCR-SSCP followed by direct sequencing of the GJB2 gene. The GJB6 gene deletion and the common non-syndromic deafness-causing mitochondrial mutations were also tested when appropriate. The 35delG mutation was predominant among patients from Volga-Ural region. Mutation 312del14 in GJB2 gene is the second most frequent cause of non-syndromic hearing impairment in the Volgo- Ural region. Our data testify to the founder effect and suggest an eastward distribution of 35delG, since its frequency in Finno-Ugric populations gradually decreases from Estonia to Komi. The question whether the Volga-Ural region could be one of the founder sources for the 235delC and 167delT mutations, widespread in Asia and Israel community, is open. Also, the 312del14 mutation in GJB2 is the second most frequent cause of non-syndromic hearing impairment in the Volga-Ural region.
Here we present the data obtained during medical genetic examination of the population of five di... more 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.
<p>Blue circles show ALDER-inferred point estimates and error bars indicate 95% confidence ... more <p>Blue circles show ALDER-inferred point estimates and error bars indicate 95% confidence intervals. Gray circles show SPCO-inferred point estimates and error bars in gray indicate 95% confidence intervals. The red bar shows the point estimate range (inferred using ALDER) across all the analyzed samples and the orange bar shows the same for SPCO-inferred dates. Admixture dates before Common Era (CE) are shown with a negative sign.</p
List of samples included in "Extended" dataset. Table S1b List of samples included in &... more List of samples included in "Extended" dataset. Table S1b List of samples included in "Core" dataset. Table S1c List of samples included in "Ancient" dataset. Table S2 Results of ADMIXTURE for K = 9. Table S3 Results of ADMIXTURE for K = 6, 7, 8. Table S4 Results of f3 test. Table S5 Results of IBD sharing analysis in 1–3 cM and 4–10 cM bins. Table S6 Total amount of shared IBD between populations. Table S7 Standard residue of linear regression analysis of distance-IBD sharing. Table S8 Distance and shared IBD between pairs of populations. Table S9: Results of f3 outgroup test with ancient samples. (XLSX 482 kb)
The history of human populations occupying the plains and mountain ridges separating Europe from ... more The history of human populations occupying the plains and mountain ridges separating Europe from Asia has been eventful, as these natural obstacles were crossed westward by multiple waves of Turkic and Uralic-speaking migrants as well as eastward by Europeans. Unfortunately, the material records of history of this region are not dense enough to reconstruct details of population history. These considerations stimulate growing interest to obtain a genetic picture of the demographic history of migrations and admixture in Northern Eurasia. We genotyped and analyzed 1076 individuals from 30 populations with geographical coverage spanning from Baltic Sea to Baikal Lake. Our dense sampling allowed us to describe in detail the population structure, provide insight into genomic history of numerous European and Asian populations, and significantly increase quantity of genetic data available for modern populations in region of North Eurasia. Our study doubles the amount of genome-wide profiles...
ABSTRACT We studied the molecular basis of NSHL in the Volga-Ural region. The Volga–Ural region o... more ABSTRACT We studied the molecular basis of NSHL in the Volga-Ural region. The Volga–Ural region of Russia is of particular interest, because its ethnic populations mostly belong to the Turkic, Finno-Ugric, and Slavonic linguistic groups and have complex ethnogenesis and combine the Caucasian and Mongoloid components in various proportions. A total number of 100 patients of Tatars, Russian or mixed ethnicity and 768 population samples were analyzed by PCR-SSCP followed by direct sequencing of the GJB2 gene. The GJB6 gene deletion and the common non-syndromic deafness-causing mitochondrial mutations were also tested when appropriate. The 35delG mutation was predominant among patients from Volga-Ural region. Mutation 312del14 in GJB2 gene is the second most frequent cause of non-syndromic hearing impairment in the Volgo- Ural region. Our data testify to the founder effect and suggest an eastward distribution of 35delG, since its frequency in Finno-Ugric populations gradually decreases from Estonia to Komi. The question whether the Volga-Ural region could be one of the founder sources for the 235delC and 167delT mutations, widespread in Asia and Israel community, is open. Also, the 312del14 mutation in GJB2 is the second most frequent cause of non-syndromic hearing impairment in the Volga-Ural region.
Here we present the data obtained during medical genetic examination of the population of five di... more 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.
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Papers by Irina Khidiyatova