Related Experiment Video
Updated: Feb 2, 2026

Genotyping of Staphylococcus aureus by Ribosomal Spacer PCR RS-PCR
Published on: November 4, 2016
Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection
Eran Bram1, Kamyab Javanmardi1, Kimberly Nicholson1
1a Asuragen, Inc , Austin , TX , USA.
Objective:
Expansion of the G4C2 repeat tract in the C9orf72 gene is linked to frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Here, we provide comprehensive genotyping of the C9orf72 repeat region for the National Institute of Neurological Disorders and Stroke (NINDS) ALS collection (n = 2095), using a novel bimodal PCR assay capable of amplifying nearly 100% GC-rich sequences.
Methods:
A single-tube 3-primer PCR assay mode, resolved using capillary electrophoresis, was used for sizing up to 145 repeats with single-repeat accuracy, for detecting expansions irrespective of their overall size, and for flagging confounding 3' sequence variations (SVs). A modified two-primer PCR mode, resolved via agarose gel electrophoresis, provided further size information for hyper-expanded samples (>145 repeats) up to ∼5.8 kb amplicons (∼950 G4C2 repeats).
Results:
Within the evaluated cohort, 177 (8.4%) samples were expanded, with 175 (99%) samples being hyper-expanded. 3'-SVs were identified in 64 (3.1%) samples, and were most common in expanded alleles. Genotypes of all 606 (29%) homozygous samples were confirmed using an orthogonal PCR assay.
Conclusion:
This study and PCR method may improve and standardize molecular characterization of the C9orf72 locus, and have the potential to inform phenotype-genotype correlations and therapeutic development in ALS/FTD.
Related Concept Videos
PCR
Uncertainty in Measurement: Reading Instruments
What is a Mode?
There can be more than one mode in a data set if multiple values have the same highest frequency. For instance, suppose that the Statistics exam scores of 20 students are: 50; 53; 59; 59; 63; 63; 72; 72; 72; 72; 72; 76; 78; 81; 83; 84; 84; 84; 90; 93. Here, the mode is 72, as it occurs most frequently, five times.
A data set with two modes is called bimodal. For example,...
Ventilatory Modes
There are three ventilatory modes: full support, partial support, and spontaneous. These are described below.
Full Support Modes
Full support modes include controlled mechanical ventilation, continuous mandatory...
IR Frequency Region: Fingerprint Region
Modes of Standing Waves - I

