Genetic epidemiological study of Bashkortostan Republic: The diversity of monogenic hereditary diseases in five districts |
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| Authors: | R A Zinchenko S Sh Murzabaeva Ya I Greenberg V A Galkina O V Khlebnikova E L Dadali V P Fedotov I M Hidiyatova E K Khusnutdinova E K Ginter |
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| Institution: | (1) Medical Genetic Research Center, Russian Academy of Medical Sciences, Moscow, 115478, Russia;(2) Department of Neurology, Neurosurgery, and Medical Genetics, Bashkir State Medical University, Ufa, 450000, Bashkortostan, Russia;(3) Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Ufa, 450054, Bashkortostan, Russia;(4) Medical Genetic Counseling Service, Voronezh, 394000, Russia |
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| Abstract: | 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). |
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