J Genet Med.  1997 Sep;1(1):23-26.

The CTG Repeat Polymorphisms of Myotonic Dystrophy (DM) Gene in Korean Population

  • 1Department of Medical Genetics and College of Medicine, Hanyang University, Seoul, Korea.
  • 2Genetic Research Laboratory, Samsung Cheil Hospital, Seoul, Korea.
  • 3Department of Obstetrics and Gynecology, College of Medicine, Hanyang University, Seoul, Korea.


Myotonic dystrophy(DM) is caused by the expansion of CTG trinucleotide repeat near the 3' end of the gene encoding for a member of protein kinase gene family (DMPK). The normal range of the CTG repeat was determined in 178 nomal individuals (141 unrelated individuals and 37 of 9 families) by polymerase chain reaction (PCR), polyacrylamide gel electrophoresis and silver staining method. And the expansion of the CTG repeats in a DM family was analyzed with Southern analysis. In normal population, the range of CTG repeat is between 5 and 34 and 19 different alleles were obserbed in that range, and (CTG)11-14 alleles were predominant. 4 members of an affected family showed the 0.5 - 2.0 kb size expansion of CTG repeats. In this study we could predict the incidence of DM in Korea as 1 in 20,000 and we could establish the diagnostic procedure for myotonic dystrophy.


CTG repeat; Korean population, myotonic dystrophy, polymorphism
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