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

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10.1016/j.mcp.2016.10.008

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A PCR-based protocol to accurately size C9orf72 intermediate-length alleles. / Biasiotto, Giorgio; Archetti, Silvana; Di Lorenzo, Diego; Merola, Francesca; Paiardi, Giulia; Borroni, Barbara; Alberici, Antonella; Padovani, Alessandro; Filosto, Massimiliano; Bonvicini, Cristian; Caimi, Luigi; Zanella, Isabella.

In: Molecular and Cellular Probes, 17.10.2016.

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

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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.",

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

Abstract

Keywords

ASJC Scopus subject areas

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