A PCR-based protocol to accurately size C9orf72 intermediate-length alleles.

Abstract:

:Although large expansions of the non-coding GGGGCC repeat in C9orf72 gene are clearly defined as pathogenic for Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD), intermediate-length expansions have also been associated with those and other neurodegenerative diseases. Intermediate-length allele sizing is complicated by intrinsic properties of current PCR-based methodologies, in that somatic mosaicism could be suspected. We designed a protocol that allows the exact sizing of intermediate-length alleles, as well as the identification of large expansions.

journal_name

Mol Cell Probes

authors

Biasiotto G,Archetti S,Di Lorenzo D,Merola F,Paiardi G,Borroni B,Alberici A,Padovani A,Filosto M,Bonvicini C,Caimi L,Zanella I

doi

10.1016/j.mcp.2016.10.008

subject

Has Abstract

pub_date

2017-04-01 00:00:00

pages

60-64

eissn

0890-8508

issn

1096-1194

pii

S0890-8508(16)30090-1

journal_volume

32

pub_type

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