J Korean Neurol Assoc.
1994 Jun;12(2):317-322.
Gene Analysis of Probable Huntington's Disease
- Affiliations
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- 1Department of Neurology, Seoul National University, Korea.
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.
