GBA Analysis in Next-Generation Era

Mutations in the gene encoding the lysosomal enzyme acid β-glucosidase (GBA) are responsible for Gaucher disease and represent the main genetic risk factor for developing Parkinson disease. In past years, next-generation sequencing (NGS) technology has been applied for the molecular analysis of the GBA gene, both as a single gene or as part of gene panel s. However, the presence of complex gene-pseudogene rearrangements, resulting from the presence of a highly homologous pseudogene (GBAP1) located downstream of the GBA gene, makes NGS analysis of GBA challenging.

Source: Journal of Molecular Diagnostics - July 17, 2017 Category: Pathology Authors: Stefania Zampieri, Silvia Cattarossi, Bruno Bembi, Andrea Dardis Tags: Regular Article Source Type: research