J Genet Med.
1997 Sep;1(1):23-26.
The CTG Repeat Polymorphisms of Myotonic Dystrophy (DM) Gene in Korean Population
- Affiliations
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- 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.
Abstract
- 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.
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