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

Giorgio Biasiotto; Silvana Archetti; Diego Di Lorenzo; Francesca Merola; Giulia Paiardi; Barbara Borroni; Antonella Alberici; Alessandro Padovani; Massimiliano Filosto; Cristian Bonvicini; Luigi Caimi; Isabella Zanella

doi:10.1016/j.mcp.2016.10.008

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

Giorgio Biasiotto, Silvana Archetti, Diego Di Lorenzo, Francesca Merola, Giulia Paiardi, Barbara Borroni, Antonella Alberici, Alessandro Padovani, Massimiliano Filosto, Cristian Bonvicini, Luigi Caimi, Isabella Zanella

Centro San Giovanni di Dio - Fatebenefratelli

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Journal	Molecular and Cellular Probes
DOIs	https://doi.org/10.1016/j.mcp.2016.10.008
Publication status	E-pub ahead of print - Oct 17 2016

Keywords

Amyotrophic lateral sclerosis
C9orf72 expansion
Frontotemporal lobar degeneration
Intermediate-length hexanucleotide repeats
Parkinsonism
Repeat-primed PCR

ASJC Scopus subject areas

Molecular Biology
Cell Biology

Access to Document

10.1016/j.mcp.2016.10.008

Cite this

@article{a101eddb99cc4ffab68fd8183dc8aadf,

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.",

keywords = "Amyotrophic lateral sclerosis, C9orf72 expansion, Frontotemporal lobar degeneration, Intermediate-length hexanucleotide repeats, Parkinsonism, Repeat-primed PCR",

author = "Giorgio Biasiotto and Silvana Archetti and {Di Lorenzo}, Diego and Francesca Merola and Giulia Paiardi and Barbara Borroni and Antonella Alberici and Alessandro Padovani and Massimiliano Filosto and Cristian Bonvicini and Luigi Caimi and Isabella Zanella",

year = "2016",

month = oct,

day = "17",

doi = "10.1016/j.mcp.2016.10.008",

language = "English",

journal = "Molecular and Cellular Probes",

issn = "0890-8508",

publisher = "Academic Press Inc.",

}

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

UR - http://www.scopus.com/inward/record.url?scp=85006094855&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85006094855&partnerID=8YFLogxK

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 -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this