C9orf72 Repeat Expansion Screening

Most of the patients (n = 94) were initially checked for C9orf72 hexanucleotide repeat expansions at the Neurogenetics Laboratory of Eginition Hospital according to a two-step protocol. This protocol included sizing PCR (amplification of the region that contains the hexanucleotide repeat with primers flanking this region), agarose electrophoresis and fragment analysis to identify samples with possible presence of the C9orf72 repeat expansion. This was followed by repeat primed PCR, to verify and separate samples with the C9orf72 repeat expansion, as previously described [21 (link),22 (link)]. Samples were then electrophorized on an ABI 310 Capillary Analyzer (Applied Biosystems, Foster City, CA, USA) and analyzed on GeneScan v3.7 (2001, Applied Biosystems, Foster City, CA, USA). In addition, 21 patients were initially analyzed for the presence of C9orf72 repeat expansion by repeat primed PCR amplification and STR (short tandem repeats) PCR analysis at the Diagnostic Service Facility, Laboratory of Neurogenetics, University of Antwerp, Belgium.

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Bourbouli M., Paraskevas G.P., Rentzos M., Mathioudakis L., Zouvelou V., Bougea A., Tychalas A., Kimiskidis V.K., Constantinides V., Zafeiris S., Tzagournissakis M., Papadimas G., Karadima G., Koutsis G., Kroupis C., Kartanou C., Kapaki E, & Zaganas I. (2021). Genotyping and Plasma/Cerebrospinal Fluid Profiling of a Cohort of Frontotemporal Dementia–Amyotrophic Lateral Sclerosis Patients. Brain Sciences, 11(9), 1239.

Publication 2021

GeneScan v3.7

Agarose Capillary Electrophoresis Neurogenetics Patients Primers

Corresponding Organization : University of Crete

Other organizations : Eginition Hospital, National and Kapodistrian University of Athens, Papageorgiou General Hospital, AHEPA University Hospital, Aristotle University of Thessaloniki

Top 5 similar protocols

Variable analysis

independent variables

Presence or absence of C9orf72 hexanucleotide repeat expansions

dependent variables

Identification of samples with possible presence of the C9orf72 repeat expansion

control variables

Sizing PCR (amplification of the region that contains the hexanucleotide repeat with primers flanking this region)
Agarose electrophoresis and fragment analysis
Repeat primed PCR to verify and separate samples with the C9orf72 repeat expansion
Electrophoresis on an ABI 310 Capillary Analyzer and analysis on GeneScan v3.7

positive controls

Samples with known C9orf72 repeat expansion

negative controls

Samples without C9orf72 repeat expansion

Annotations

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