SCA2 and SCA3 are related to the CAG repeats expansion in there respective genes. SCA2 and 3 genes are located on to chromosome number 12 and 14 respectively. These expanded CAG repeats results in expanded polyglutamine protein termed ataxin (ATXN 2 and ATXN 3 respectively). In India the rate of mutation in these subtypes is dominating over other types of SCAs
To detect the mutated alleles of SCA2, SCA3 and its variants in spinocerebellar ataxia through the primer specific amplification and probe based hybridization.
SCA2 and SCA3 are most commonly occurring subtype of SCA in patients, worldwide. Therefore it is necessary to have method for its detection with high rate of efficiency. The present study deals with the design of primer and probe related hybridization approach for diagnosis of SCA2 and 3 and its variants, and it is one of the unique approaches of its nature.
The present study deals with the diagnostic method for detection of SCA2 and SCA3 along with its variants. The authors have designed primer and probe specific for SCA2 and SCA3 subtypes. Primer can be used for amplification of SCA2 and SCA3 genes and complimentary probes will be used as a base for hybridization for identification of SCA2 and SCA3 subtype.
SCA2, SCA3, hybridization
