Article
Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3).
Molecular diagnosis & therapy - 1 Dec 2016
Melo Ana Rosa Vieira, Ramos Amanda, Kazachkova Nadiya, Raposo Mafalda, Bettencourt Bruno Filipe, Rendeiro Ana Rita, Kay Teresa, Vasconcelos João, Bruges-Armas Jácome, Lima Manuela
Abstract excerpt
INTRODUCTION AND OBJECTIVE: Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine (polyQ) disorder for which the routine molecular testing is based on PCR and automated capillary electrophoresis. When only a normal allele is detected by standard PCR, the hypothesis of a failed amplification of the expanded allele must be raised. In such cases, complementary techniques such as Southern Blot or triplet repeat...
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