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Zaplakhova O.V.

Bashkirskiĭ gosudarstvennyĭ meditsinskiĭ universitet, Ufa

Timasheva Ya.R.

Institute of Biochemistry and Genetics Ufa Scientific Centre of Russian Academy of Sciences, Ufa, Russia

Bakhtiiarova K.Z.

Bashkirskiĭ gosudarstvennyĭ meditsinskiĭ universitet, Ufa

Tuktarova I.A.

FGBUN «Institut biohimii i genetiki», Ufa

Mustafina O.E.

Institute of Biochemistry and Genetics of Ufa Scientific Centre of the Russian Academy of Sciences, Ufa, Russia

Clinical and molecular genetic analysis of a case of familial multiple sclerosis in the Republic of Bashkortostan

Authors:

Zaplakhova O.V., Timasheva Ya.R., Bakhtiiarova K.Z., Tuktarova I.A., Mustafina O.E.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2017;117(2‑2): 31‑41

DOI: 10.17116/jnevro20171172231-41

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To cite this article:

Zaplakhova OV, Timasheva YaR, Bakhtiiarova KZ, Tuktarova IA, Mustafina OE. Clinical and molecular genetic analysis of a case of familial multiple sclerosis in the Republic of Bashkortostan. S.S. Korsakov Journal of Neurology and Psychiatry. 2017;117(2‑2):31‑41. (In Russ.)
https://doi.org/10.17116/jnevro20171172231-41

 
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Objective. To investigate clinical manifestations of multiple sclerosis (MS) and the genetic makeup of six affected members of one family. Material and methods. Six members of the family of Russian ethnic origin were examined. Pedigree analysis and genotyping of polymorphic markers of candidate genes for multiple sclerosis were performed. Results and conclusion. The accumulation of alleles that were associated with autoimmune diseases according to the results of genome-wide association studies (rs1109670*C, rs3129934*T, rs9523762*G, rs1570538*T) was found in the family. The results confirm the contribution of several genetic variants to familial forms of MS.

Keywords:

multiple sclerosis
familial multiple sclerosis
candidate genes
GWAS

Authors:

Zaplakhova O.V.

Bashkirskiĭ gosudarstvennyĭ meditsinskiĭ universitet, Ufa

Timasheva Ya.R.

Institute of Biochemistry and Genetics Ufa Scientific Centre of Russian Academy of Sciences, Ufa, Russia

Bakhtiiarova K.Z.

Bashkirskiĭ gosudarstvennyĭ meditsinskiĭ universitet, Ufa

Tuktarova I.A.

FGBUN «Institut biohimii i genetiki», Ufa

Mustafina O.E.

Institute of Biochemistry and Genetics of Ufa Scientific Centre of the Russian Academy of Sciences, Ufa, Russia

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