TY - JOUR
T1 - A PCR-based protocol to accurately size C9orf72 intermediate-length alleles
AU - Biasiotto, Giorgio
AU - Archetti, Silvana
AU - Di Lorenzo, Diego
AU - Merola, Francesca
AU - Paiardi, Giulia
AU - Borroni, Barbara
AU - Alberici, Antonella
AU - Padovani, Alessandro
AU - Filosto, Massimiliano
AU - Bonvicini, Cristian
AU - Caimi, Luigi
AU - Zanella, Isabella
PY - 2016/10/17
Y1 - 2016/10/17
N2 - 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.
AB - 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.
KW - Amyotrophic lateral sclerosis
KW - C9orf72 expansion
KW - Frontotemporal lobar degeneration
KW - Intermediate-length hexanucleotide repeats
KW - Parkinsonism
KW - Repeat-primed PCR
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U2 - 10.1016/j.mcp.2016.10.008
DO - 10.1016/j.mcp.2016.10.008
M3 - Article
AN - SCOPUS:85006094855
JO - Molecular and Cellular Probes
JF - Molecular and Cellular Probes
SN - 0890-8508
ER -