Abstract
Diversity of monogenic hereditary diseases (MHD) in the population of eight districts of the Republic of Tatarstan (RT) is reviewed. The number of the investigation population was 264,310 people. The analysis was performed for the entire population of the region, and separately for the representatives of the titular nation — Tatars. Tatar population (209,265 people) represented by three basic ethnographic groups — the Kazan Tatars (Arsky, Athninsky, Kukmorsky districts) Mishars (Buinsky, Drozhzhanovsky) and Teptyars (Aktanysh, Muslumovsky and Menzelinsky). Nosological spectrum of MHD was 256 diseases: 135 with an autosomal dominant (AD) mode of inheritance, 97 with autosomal recessive (AR) and 24 X-linked. The prevalence of the MHD, frequent and rare nosological forms, the accumulation of some diseases in subpopulations was determined. For 38 MHD (211 patients) diagnostics was carried out for DNA. A comparison of the diversity of the MHD with previously published data on the genetic and epidemiological studies of the European part of Russia: Kirov, Kostroma, Tver, Bryansk and Rostov regions, Krasnodar Kray and the Republics of Chuvashia, Bashkortostan, Mari El, Udmurtia and Adygea.
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