Abstract
Analysis of the diversity of monogenic hereditary diseases in eight raions (districts) of Rostov oblast (region) of Russia (Tsimlyansk, Volgodonskoi, Tselina, Egorlykskaya, Millerovo, Tarasovskaya, Rodionovo-Nesvetaiskaya, and Matveevo-Kurgan raions) has been summarized. The total sample size was 320925 subjects. The spectrum of hereditary diseases detected in the eight districts comprises 187 diseases, including 99 autosomal dominant (AD), 72 autosomal recessive (AR), and 16 X-linked diseases. The mean prevalence rate of each disease in the total population has been calculated. Accumulation of individual diseases in different regions of Rostov oblast has been calculated; the disease accumulation has been compared with that in some populations of Russia examined earlier. Cluster analysis using the data on the frequencies of genes of hereditary diseases has shown the gene geographic position of the Rostov oblast population among the following ethnic populations of Russia: Russians (Kostroma, Kirov, and Rostov oblasts and Krasnodar krai), Chuvashes (Chuvashia), Adygeans (Adygea), Maris (Marii El), and Udmurts (Udmurtia).
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Zinchenko, R.A., Amelina, S.S., El’chinova, G.I., et al., Epidemiology of Monogenetic Hereditary Diseases in the Rostov Oblast: Factors of Population Dynamics, Determining Differentiation Hereditary Pathology Burden in Eight Regions, Russ. J. Genet., 2009, vol. 45, no. 2, pp. 254–252.
Zinchenko, R.A., El’chinova, G.I., Baryshnikova, N.V., et al., Prevalences of Hereditary Diseases in Different Populations of Russia, Russ. J. Genet., 2007, vol. 43, no. 9, pp. 1038–1045.
Ginter, E.K. and Zinchenko, R.A., Hereditary Disorders in Russian Populations, Vestn. Vser. O-va Genet. Selekts., 2006, vol. 10, no. 1, pp. 106–125.
Zinchenko, R.A., Population Geography of Hereditary Diseases: Current Trends, in Metodicheskoe posobie “Sovremennye dostizheniya geneticheskikh issledovanii: klinicheskie aspekty” (Manual on Current Achievements in Genetic Research: Clinic Aspects), Rostov-on-Don, 2003, pp. 4–18.
Kozlova, S.I. and Demikova, N.S., Nasledstvennye sindromy i mediko-geneticheskoe konsul’tirovanie (Hereditary Syndromes and Medical Genetic Counseling), Moscow: Avtorskaya Akademiya, 2007.
Mediko-geneticheskoe opisanie naseleniya Adygei (Medical Genetic Description of the Adygean Population), Ginter, E.K, Ed., Maikop: Adygeya, 1997.
Nasledstvennye bolezni v populyatsiyakh cheloveka (Hereditary Diseases in Human Populations), Ginter, E.K., Ed., Moscow: Meditsina, 2002.
Geneticheskaya struktura i nasledstvennye bolezni chuvashskoi populyatsii (Genetic Structure and Hereditary Diseases of the Chuvash Population), Ginter, E.K. and Zinchenko, R.A., Eds., Cheboksary, 2006, pp. 96–123.
Zinchenko R.A., El’chinova G.I., Nurbaev S.D., and Ginter E.K., Diversity of Autosomal Dominant Disorders in the Populations of Russia, Russ. J. Genet., 2001, vol. 37, no. 3, pp. 290–301.
Zinchenko R.A., El’chinova G.I., Gavrilina, S.G., and Ginter E.K., Analysis of Diversity of Autosomal-Recessive Diseases in Russian Populations, Russ. J. Genet., 2001, vol. 37, no. 11, pp. 1293–1298.
Zhivotovskii, L.A., Populyatsionnaya biometriya (Population Biometry), Moscow: Nauka, 1991.
Baird, P.A., Anderson, T.W., Newcombe, N.B., and Lowry, R.B., Genetic Disorders in Children and Young Adults: A Population Study, Am. J. Hum. Genet., 1988, vol. 42, pp. 677–694.
Carter, C.O., Monogenetic Disorders, J. Med. Genet., 1977, vol. 14, pp. 316–320.
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Original Russian Text © R.A. Zinchenko, S.S. Amelina, R.A. Shokarev, R.A. Valkov, T.I. Valkova, N.V. Vetrova, N.V. Kriventsova, G.I. Elchinova, N.V. Petrova, O.V. Khlebnikova, 2009, published in Genetika, 2009, Vol. 45, No. 4, pp. 536–545.
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Zinchenko, R.A., Amelina, S.S., Shokarev, R.A. et al. Epidemiology of monogenic hereditary diseases in Rostov oblast: Population dynamic factors determining the differentiation of the load of hereditary diseases in eight districts. Russ J Genet 45, 469–477 (2009). https://doi.org/10.1134/S1022795409040127
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DOI: https://doi.org/10.1134/S1022795409040127