A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2.

@article{Bonifazi2004ALP,
  title={A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2.},
  author={Emanuela Bonifazi and Laura Vallo and Emiliano Giardina and Annalisa Botta and Giuseppe Novelli},
  journal={Diagnostic molecular pathology : the American journal of surgical pathology, part B},
  year={2004},
  volume={13 3},
  pages={
          164-6
        }
}
Myotonic dystrophy type 2 (DM2) lacks the expansion on chromosome 19q13 present in DM1 and is characterized by a mutation on 3q21. It has been shown that the DM2 mutation is a huge [CCTG]n repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene. The longest normal allele observed has a approximately 30 CCTG repeat, whereas the range of expansion is extremely variable, starting from 75 up to 11,000 CCTGs. Direct analysis by Southern blot, after restriction enzyme digestion of… CONTINUE READING

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