[Genetic epidemiological study of Bashkortostan Republic: the diversity of monogenic hereditary diseases in five districts].

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  • Additional Information
    • Source:
      Publisher: Izdatelstvo Nauka Country of Publication: Russia (Federation) NLM ID: 0047354 Publication Model: Print Cited Medium: Print ISSN: 0016-6758 (Print) Linking ISSN: 00166758 NLM ISO Abbreviation: Genetika Subsets: MEDLINE
    • Publication Information:
      Original Publication: Moskva : Izdatelstvo Nauka
    • Subject Terms:
      Epidemiologic Studies* ; Genes, Recessive* ; Genetic Predisposition to Disease*; Genetic Diseases, Inborn/*genetics; Bashkiria/epidemiology ; Genetic Diseases, Inborn/ethnology ; Genetic Testing ; Genetics, Population ; Humans
    • 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).
    • Publication Date:
      Date Created: 20090619 Date Completed: 20090714 Latest Revision: 20091119
    • Publication Date:
      20231215
    • Accession Number:
      19534428