Results for the use of the new medical technology «The detection system in one tube, the frequent mutations in ATXN1, ATXN2, ATXN3 genes in spinocerebellar ataxia» in DNA diagnostics

Spinocerebellar ataxias (SCAs) are a group of autosomal dominant inherited disorders characterized by progressive cerebellar ataxia and variable findings. SCAs are classified genetically according to a specific mutation or mapped locus, and also based on the clinical data. There are now more than 30 known genes responsible for spinocerebellar ataxia. SCAs are caused by a polyglutamine trinucleotide repeat CAG expansion. The symptoms of SCA are vary in individual patients and even within the same family. The results of the DNA diagnostics 335 probands with Spinocerebellar ataxia and their families, using of the new medical technology «the detection system in one tube, the frequent mutations in ATXN1, ATXN2, ATXN3 genes in spinocerebellar ataxia», are presented in the research.

спиноцеребеллярная атаксия, ATXN1, ATXN2, ATXN3, ДНК-диагностика, экспансия тринуклеотидных повторов, spinocerebellar ataxia, ATXN1, ATXN2, ATXN3, DNA diagnostics, expansion

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