Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions

A hexanucleotide GGGGCC repeat expansion in C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD). Accurate determination and quantitation of the repeat length is critical in both clinical and research settings. However, due to the complexity of the C9orf72 expansion with high GC content, large size of repeats, and high rate of insertion/deletions (indels) and sequence variations in the flanking regions, molecular genetic analysis of the locus is challenging.

Source: Journal of Molecular Diagnostics - August 20, 2018 Category: Pathology Authors: EunRan Suh, Kaitlyn Grando, Vivianna M. Van Deerlin Tags: Regular Article Source Type: research