Article
Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients.
Genetics and molecular research : GMR - 12 Apr 2013
Calì F, Chiavetta V, Ragalmuto A, Vinci M, Ruggeri G, Schinocca P, Romano V
Abstract excerpt
We developed a new application of comparative multiplex dosage analysis (CMDA) for evaluation of the ataxin 2 gene. Expansions of the triplet CAG can cause spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disease with an autosomal-dominant mode of inheritance. Molecular diagnosis of SCA2 is routinely based on the use of conventional PCR to detect the CAG expansion. However, PCR does not amplify an allele...
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