Biomics

There are two types of myotonic dystrophy. It is caused by malfunction of  DMPK or ZNF9 genes, in with an expansion of CG-rich repeats occur. In a 3'-site of DMPK gene multiple CTG/CAG-repeats, and in a first intron of  ZNF9 gene CCTG/CAGG-repeats are observed. Because of strong secondary structures at these sites it is hard to determine the number of repeats, laborious and long Southern blotting is used. Faster and cheaper PCR-based methods are being proposed to determine this disease on genetic level or the risk of its development with age.

Myotonic dystrophy, hereditary diseases, expansion of simple repeats, CTG/CAG, CCTG/CAGG, PCR

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