The CTG Repeat Polymorphisms of Myotonic Dystrophy (DM) Gene in Korean Population.
- Author:
Sung Han SHIM
1
;
Youl Hee CHO
;
Soo Kyung CHOI
;
Sung Ro CHUNG
Author Information
1. Department of Medical Genetics and College of Medicine, Hanyang University, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
CTG repeat;
Korean population, myotonic dystrophy, polymorphism
- MeSH:
Alleles;
Electrophoresis, Polyacrylamide Gel;
Humans;
Incidence;
Korea;
Myotonic Dystrophy*;
Polymerase Chain Reaction;
Protein Kinases;
Reference Values;
Silver Staining;
Trinucleotide Repeats
- From:Journal of Genetic Medicine
1997;1(1):23-26
- CountryRepublic of Korea
- Language:Korean
-
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.
