Mutations in several genes, including the C9orf72, SOD1, TARDBP, FUS, ANG, ALS2, SETX, and VAPB genes, cause familial ALS and contribute to the development of sporadic ALS. Mutations in the C9orf72 gene are responsible for 30 to 40 percent of familial ALS in the United States and Europe.
Hexanucleotide repeat expansion in the C9ORF72 locus has been identified as a genetic cause, or at least a strong risk factor, for a significant proportion of amyotrophic
lateral sclerosis cases. Hexanucleotide (GGGGCC)expansions within the C9ORF72 locus account for
approximately 10% of all amyotrophic lateral sclerosis (ALS) cases. Difficulty in estimating the
size of the C9ORF72 expansion has precluded investigation
of possible correlations between the repeat length and
disease characteristics such as age of onset, severity, or
speed of progression.
ALS C9orf72 GeneProber ALS-GL577 is a non-radioactive probe for Southern Blot analysis and detection of the expansion size.