Gene Analysis of Probable Huntington's Disease

J Korean Neurol Assoc > Volume 12(2); 1994 > Article

Journal of the Korean Neurological Association 1994;12(2): 317-322.

헌팅톤씨병이 의심된는 예에서 시행한 유전자 분석에 대한 연구

김만호, 이광우,박경석,전범석,이상복,명호진,홍민아,서유헌

서울대학교 신경과, 약리학.

Gene Analysis of Probable Huntington's Disease

M.H.Kim, M.D., K.W.Lee, M.D., K.S.Park, M.D., B.S.Jeon, M.D., S.B.Lee, M.D., H.J.Myung, M.D.

Department of Neurology, Seoul National University

Abstract

Increased CAG repeats with full gene sequence (IT15) in Huntington's disease (HD) became known in 1993. We used polymerase chain reaction (PCR) in patients with clinically diagnosed Huntington's disease. After extraction of genomic DNA from patient's blood, we amplified mutation site containing CAG repeats by PCR method using double 30mer primers. Agarose gel electrophoresis with DNA ladder marker was performed and fluorescent staining was done using EtBr solution. Clinically diagnosed HD patients showed band at the same level that was not different from that of normal control. This suggests that these patients do not have increased CAG repeats in amplified site and means that they are probably not Huntington's disease. Therefore, we conclude that diagnosis of HD should be confirmed more spec : ficaly by PCR method with primers in flanking area.