A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants

Deleterious variants in the GBA gene confer a 2- to 20-fold increased risk of Parkinson's disease (PD) and are associated with a more severe disease course. The presence of a highly-similar pseudogene complicates genetic screening, both by Sanger and next-generation sequencing (NGS). Among PD-associated GBA variants, four missense substitutions (p.L444P, p. N370S, p. T369  M, p. E326K) account for the majority of cases. Here, we aimed at developing an allele-specific PCR (AS-PCR) able to concomitantly detect the most common PD-related GBA variants.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Short communication Source Type: research