Data mining revealed no other trinucleotide repeat expansion associated with the Huntington's disease biomarker (CAG).

The CAG trinucleotide repeat expansion is believed to be the only expansion associated with Huntington's Disease and other phenotypically similar genetic diseases. Here, we mine a large set of data that contains samples from patients of Huntington's disease as well as control to find associated trinucleotide repeat expansions of CAG. The total number of pathological and control datasets is 83 and 74, respectively. The total number of DNA base pairs in these samples is 210 and 162 Gigabases (1 × 109 bases). Predicated on association rules, most of the trinucleotide repeats found in these datasets have no significant expansions, although some trinucleotides, such as AAA, GAA, and TGC, showed higher presence in pathological samples than controls, but not to the point of being viewed as significant. Evidently, the expansions of CAG trinucleotide are the only expansions that can act as a biomarker for Huntington's disease and other related genetic diseases.