expanded trinucleotide repeats การใช้

She also cloned the gene responsible for Myotonic dystrophy and showed that an expanded trinucleotide repeat in this gene also was unstable and caused Myotonic dystrophy.
Together, these discoveries characterized the molecular basis of genetic anticipation, the phenomenon of worsening severity in subsequent generations, as being due to unstable, expanded trinucleotide repeats.
Huntington's disease has autosomal dominant inheritance, meaning that an affected individual typically inherits one copy of the gene with an expanded trinucleotide repeat ( the mutant allele ) from an affected parent.
The RNA from the expanded trinucleotide repeat region forms intranucleoplasmic hairpin loops due to the extensive hydrogen bonding between C-G base pairs, and it has been demonstrated that these sequester the splicing regulator MBNL1 to form distinctive foci by labelling it with GFP and a probe oligonucleotide with the red-fluorescent dye Cyanine5 ( Cy5)