|
KMID : 1189119970010010023
|
|
대한의학유전학회지
1997 Volume.1 No. 1 p.23 ~ p.26
|
|
|
Molecular biological diagnosis of Spinal Muscular atrophy
|
|
Shim Sung-Han
Cho Youl-Hee
Choi Soo-Kyung
Chung Sung-Ro
|
|
|
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.
|
|
|
KEYWORD
|
|
|
CTG repeat, Korean population, myotonic dystrophy, polymorphism
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|