title: 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.
authors.affiliation: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Biotechnology Laboratory, Department of Diagnostics, Civic Hospital of Brescia, Brescia, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Biasiotto
authors.affiliation: Biotechnology Laboratory, Department of Diagnostics, Civic Hospital of Brescia, Brescia, Italy.
authors.forename: Silvana
authors.initials: S
authors.lastname: Archetti
authors.affiliation: Biotechnology Laboratory, Department of Diagnostics, Civic Hospital of Brescia, Brescia, Italy.
authors.forename: Diego
authors.initials: D
authors.lastname: Di Lorenzo
authors.affiliation: Biotechnology Laboratory, Department of Diagnostics, Civic Hospital of Brescia, Brescia, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Merola
authors.affiliation: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Biotechnology Laboratory, Department of Diagnostics, Civic Hospital of Brescia, Brescia, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Paiardi
authors.affiliation: Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy; Neurology Unit, Centre for Aging Brain and Neurodegenerative Diseases, Civic Hospital of Brescia, Brescia, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Borroni
authors.affiliation: Neurology Unit, Centre for Aging Brain and Neurodegenerative Diseases, Civic Hospital of Brescia, Brescia, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Alberici
authors.affiliation: Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy; Neurology Unit, Centre for Aging Brain and Neurodegenerative Diseases, Civic Hospital of Brescia, Brescia, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Padovani
authors.affiliation: Neurology Unit, Centre for Neuromuscular Diseases and Neuropathies, Civic Hospital of Brescia, Brescia, Italy.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Filosto
authors.affiliation: Genetic Unit, IRCCS S.Giovanni di Dio, Fatebenefratelli, Brescia, Italy.
authors.forename: Cristian
authors.initials: C
authors.lastname: Bonvicini
authors.affiliation: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Biotechnology Laboratory, Department of Diagnostics, Civic Hospital of Brescia, Brescia, Italy.
authors.forename: Luigi
authors.initials: L
authors.lastname: Caimi
authors.affiliation: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Biotechnology Laboratory, Department of Diagnostics, Civic Hospital of Brescia, Brescia, Italy. Electronic address: isabella.zanella@unibs.it.
authors.forename: Isabella
authors.initials: I
authors.lastname: Zanella
mesh_terms: D000483:Alleles; D000073885:C9orf72 Protein; D004587:Electrophoresis, Agar Gel; D005838:Genotype; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins
keywords: Amyotrophic lateral sclerosis; C9orf72 expansion; Frontotemporal lobar degeneration; Intermediate-length hexanucleotide repeats; Parkinsonism; Repeat-primed PCR