[巴什科尔托斯坦共和国一例家族性多发性硬化症的临床与分子遗传学分析]
[Clinical and molecular genetic analysis of a case of familial multiple sclerosis in the Republic of Bashkortostan].
作者信息
Zaplakhova O V, Timasheva Ya R, Bakhtiyarova K Z, Tuktarova I A, Mustafina O E
机构信息
Institute of Biochemistry and Genetics Ufa Scientific Centre of Russian Academy of Sciences, Ufa, Russia; Bashkir State Medical University, Ufa, Russia.
Institute of Biochemistry and Genetics Ufa Scientific Centre of Russian Academy of Sciences, Ufa, Russia.
出版信息
Zh Nevrol Psikhiatr Im S S Korsakova. 2017;117(2. Vyp. 2):31-41. doi: 10.17116/jnevro20171172231-41.
AIM
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 (rs1109670C, rs3129934T, rs9523762G, rs1570538T) was found in the family. The results confirm the contribution of several genetic variants to familial forms of MS.
目的
研究多发性硬化症（MS）的临床表现以及一个家族中六名患病成员的基因组成。
材料与方法
对来自俄罗斯族的该家族六名成员进行了检查。进行了家系分析和多发性硬化症候选基因多态性标记的基因分型。
结果与结论
根据全基因组关联研究结果，在该家族中发现了与自身免疫性疾病相关的等位基因积累（rs1109670C、rs3129934T、rs9523762G、rs1570538T）。结果证实了几种基因变异对家族性MS形式的影响。
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