Abstract
Eight nuclear DNA loci, including six Alu insertions (ACE, APOA1, PV92, TPA25, Ya5NBC27, and Ya5NBC148), 32-bp deletion in the CCR5 gene, and VNTR locus at the eNOS gene, were examined in three ethnogeographic groups of Kazakhs (342 individuals). The individuals examined lived in southeastern, central, and southwestern regions of Kazakhstan, and according to their tribal attribution, belonged to the Senior, Middle, and Junior Zhuzes. The Alu insertions appeared to be polymorphic in all populations examined: the insertion frequency varied from 0.264 in the populations of the Senior and Middle Zhuzes at the Ya5NBC27 and Ya5NBC148 loci, to 0.827 in Kazakhs of the Middle Zhuz at the APOA1 locus. In Kazakh groups examined only two alleles of the eNOS VNTR locus were detected with the number of repeats constituting four (A) and five (B) copies. The highest frequency of A allele was found in Kazakhs from the Junior Zhuz (0.113), while the highest frequency of B allele was detected in population of the Senior Zhuz (0.893). The frequency of the 32-bp deletion in the chemokine receptor CCR5 gene varied from 0.027 in the Junior Zhuz to 0.045 in the Senior Zhuz. Kazakhs showed high genetic diversity (H ex = 0.376). In general, in three ethnogeographic groups of Kazakhs, the coefficient of gene differentiation (G ST) over eight diallelic markers of nuclear genome constituted 1.1%. The differences in the Alu insertions made the highest contribution to the among-population diversity (G ST = 1.2%).
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REFERENCES
Narody Srednei Azii i Kazakhstana (Ethnic Groups of Central Asia and Kazakhstan), Tolstov, S.P. et al., Eds., Moscow: Akad. Nauk SSSR, 1962, vol. 2.
Narody Rossii: entsiklopediya (Ethnic Groups of Russia: An Encyclopedia), Tishkov, V.A., Ed., Moscow: Bol’shaya Rossiiskaya Entsiklopediya, 1994.
Ismagulov, O., Etnicheskaya antropologiya Kazakhstana: Somaticheskie issledovaniya (Ethnic Anthropology of Kazakhstan: Somatic Studies), Alma-Ata: Nauka, 1982.
Genofond i genogeografiya narodonaseleniya (Gene Pool and Gene Geography of the Human Population), vol. 1: Genofond naseleniya Rossii i sopredel’nykh stran (Gene Pool of the Population of Russia and Adjacent Countries), St. Petersburg: Nauka, 2000.
Johns, M.B. and Paulus-Thomas, J.E., Purification of Human Genomic DNA from Whole Blood Using Proteinase K Treatment Followed by Phenol-Chloroform Extraction, Anal. Biochem., 1989, vol. 180, pp. 276–278.
Batzer, M.A., Stonecking, M., Alegria-Hartman, M., et al., African Origin of Human-Specific Polymorphic Alu Insertions, Proc. Natl. Acad. Sci. USA, 1994, vol. 91, pp. 12 288–12 292.
Tiret, L., Riget, B., Viskivis, S., et al., Evidence from Combined Segregation and Linkage Analysis, That a Variant of the Angiotensin I-Converting Enzyme (ACE) Gene Controls Plasma ACE Levels, Am. J. Hum. Genet., 1992, vol. 51, pp. 197–205.
Yang-Feng, T., Opdenakker, G., Volekaert, G., et al., Human Tissue-Type Plasminogen Activator Gene Located near Chromosomal Breakpoint in Myeloproliferative Disorder, Am. J. Hum. Genet., 1986, vol. 39, pp. 79–87.
http://www.genetics.urah.edu/swatkins/pub/Alu-primes.
Wang, X.L., Sim, A.S., Badenhop, R.F., et al., A Smocking-Dependent Risk of Coronary Artery Disease Associated with the Polymorphism of Endothelial Nitric Oxide Synthase Gene, Nat. Med., 1996, vol. 2, pp. 41–45.
Slominskii, P.A., Shadrina, M.I., Spitsyn, V.A., et al., A Simple and Rapid Method for Determining a 32-bp Deletion in the Gene for the Chemokine Receptor CCR5, Rus. J. Genet., 1997, vol. 33, no.11, pp. 1368–1370.
Reynolds, J., Weir, B.S., and Cocherham, C.C., Estimation of the Coancestry Coefficient: Basis for a Short-Term Genetic Distance, Genetics, 1983, vol. 105, pp. 767–779.
Nei, M., Molecular Population Genetics and Evolution, Amsterdam: North-Holland, 1975, p. 278.
Page, R.D.M., TREEVIEW: An Application to Display Phylogenetic Trees on Personal Computers, Comput. Appl. Biosci., 1996, vol. 12, pp. 357–358.
Roy, A., Caroll, M., Kass, D., et al., Recently Integrated Human Alu Repeats: Finding Needles in the Haystack, Genetics, 1999, vol. 107, pp. 149–161.
Rowold, D. and Herrera, R., Alu Elements and the Human Genome, Genetics, 2000, vol. 108, pp. 57–72.
Nasidze, I., Rich, G., Robichaux, M., et al., Alu Insertion Polymorphism and the Genetic Structure of Human Populations from the Causus, Eur. J. Hum. Genet., 2001, vol. 9, pp. 267–272.
Stepanov, V.A., Etnogenomika naseleniya Severnoi Evrazii (Ethnogenomics of the North Eurasian Population), Tomsk: Pechatnaya Manufaktura, 2002.
Tuvintsy: geny, demografiya, zdorov’e (Tuvinians: Genes, Demography, Health), Kucher, A.N., Ondar, E.A., Stepanov, V.A., et al., Eds., Tomsk: Pechatnaya Manufaktura, 2003.
Hooper, W.C., Lally, C., Austin, H., et al., The Relationship between Polymorphism in the Endothelial Nitric Oxide Synthase Gene and the Platelet GPIIIa Gene with Myocardial Infarction and Venous Thromboembolism in African Americans, Chest, 1999, vol. 116, no.4, pp. 880–886.
Ishihara, S., Yamada, Y., Fujimura, T., and Yokota, M., Association of Polymorphism of the Endothelial Constitutive Nitric Oxide Synthase Gene with Myocardial Infarction in Japanese Population, Am. J. Cardiol., 1998, vol. 81, pp. 83–86.
Nakagami, H., Ikeda, U., Maeda, J., et al., Coronary Artery Disease and Endothelial Nitric Oxide Synthase and Angiotensin-Converting Enzyme Gene Polymorphisms, J. Thrombolysis, 1999, vol. 8, pp. 191–195.
Akar, N., Akar, E., Cin, S., et al., Endothelial Nitric Oxide Synthase Intron 4, 27-bp Repeat Polymorphism in Turkish Patients with Deep Vein Thrombosis and Cerebrovascular Accidents, Thrombosis Res., 1999, vol. 94, pp. 63–64.
Mustafina, O.E., Shagisultanova, E.I., Nasibullin, T.R., et al., Polymorphism of the Minisatellite of the Endothelium Nitric Oxide Synthase Gene: Research in Populations of the Volga-Ural Region and the Analysis of Associations with a Cardiac Infarction and Essential Hypertension, Rus. J. Genet., 2001, vol. 37, no.5, pp. 546–551.
Korshunova, T.Yu., Akhmetova, V.L., Kutuev, I.A., et al., Analysis of the VNTR Polymorphism at the PAH and eNOS Genes and the CCRS Gene Deletion in Population of Northern Caucasus, Rus. J. Genet., 2004, vol. 40, no.3, pp. 321–325.
Galeeva, A.R., Khusnutdinova, E.K., Slominskii, P.A., and Limborskaya, S.A., Distribution of the CCR5 Chemokine Receptor Gene 32-bp Deletion in Populations of the Volga-Ural Region, Rus. J. Genet., 1998, vol. 34, no.8, pp. 976–978.
Aseev, M.V., Shaui, A., Din, M., and Baranov, V.S., Population Frequencies of the CKR5 Mutant Allele of the Chemokine Receptor Gene Responsible for HIV Infection, Rus. J. Genet., 1997, vol. 33, no.12, pp. 1475–1477.
Kereitov, R.Kh., Etnicheskaya istoriya Nogaitsev (Ethnic History of Noghai), Stavropol’, 1999.
Khusnutdinova, E.K., Molekulyarnaya etnogenetika narodov Volgo-Ural’skogo regiona (Molecular Ethnogenetics of Ethnic Groups of the Volga-Ural Region), Ufa: Gilem, 1999.
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Translated from Genetika, Vol. 41, No. 7, 2005, pp. 973–980.
Original Russian Text Copyright © 2005 by Salimova, Kutuev, Khusainova, Akhmetova, Svyatova, Berezina, Khusnutdinova.
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Salimova, A.Z., Kutuev, I.A., Khusainova, R.I. et al. Analysis of Ethnogeographic Groups of Kazakhs Based on Nuclear Genome DNA Polymorphism. Russ J Genet 41, 794–800 (2005). https://doi.org/10.1007/s11177-005-0162-1
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DOI: https://doi.org/10.1007/s11177-005-0162-1