CLINICAL AND MOLECULAR GENETIC ANALYSIS OF A CASE OF FAMILIAL MULTIPLE SCLEROSIS IN THE REPUBLIC OF BASHKORTOSTAN

Abstract:

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.

Тип: Article