Title: Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan
Abstract: Acta Neurologica ScandinavicaVolume 109, Issue 5 p. 355-360 Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan H.-F. Tsai, H.-F. Tsai Institute of Medicine School of Medical TechnologySearch for more papers by this authorC.-S. Liu, C.-S. Liu Department of Medicine, Chung Shan Medical University, Taichung Department of Neuroscience, Vascular and Genomic Center, Chunghua Christian Hospital, ChunghuaSearch for more papers by this authorT.-M. Leu, T.-M. Leu Department of Neuroscience, Chung Shan Medical University Hospital, TaichungSearch for more papers by this authorF.-C. Wen, F.-C. Wen Institute of MedicineSearch for more papers by this authorS.-J. Lin, S.-J. Lin Department of Pediatrics, National Cheng Kong University, TainanSearch for more papers by this authorC.-C. Liu, C.-C. Liu Department of Life Sciences, Chung Shan Medical University, TaichungSearch for more papers by this authorD.-K. Yang, D.-K. Yang School of Medical TechnologySearch for more papers by this authorC. Li, C. Li Department of Life Sciences, Chung Shan Medical University, TaichungSearch for more papers by this authorM. Hsieh, M. Hsieh Department of Life Sciences, Chung Shan Medical University, Taichung Department of Biology Life Science Research Center, Tunghai University, Taichung, Taiwan, ROCSearch for more papers by this author H.-F. Tsai, H.-F. Tsai Institute of Medicine School of Medical TechnologySearch for more papers by this authorC.-S. Liu, C.-S. Liu Department of Medicine, Chung Shan Medical University, Taichung Department of Neuroscience, Vascular and Genomic Center, Chunghua Christian Hospital, ChunghuaSearch for more papers by this authorT.-M. Leu, T.-M. Leu Department of Neuroscience, Chung Shan Medical University Hospital, TaichungSearch for more papers by this authorF.-C. Wen, F.-C. Wen Institute of MedicineSearch for more papers by this authorS.-J. Lin, S.-J. Lin Department of Pediatrics, National Cheng Kong University, TainanSearch for more papers by this authorC.-C. Liu, C.-C. Liu Department of Life Sciences, Chung Shan Medical University, TaichungSearch for more papers by this authorD.-K. Yang, D.-K. Yang School of Medical TechnologySearch for more papers by this authorC. Li, C. Li Department of Life Sciences, Chung Shan Medical University, TaichungSearch for more papers by this authorM. Hsieh, M. Hsieh Department of Life Sciences, Chung Shan Medical University, Taichung Department of Biology Life Science Research Center, Tunghai University, Taichung, Taiwan, ROCSearch for more papers by this author First published: 06 April 2004 https://doi.org/10.1046/j.1600-0404.2003.00229.xCitations: 37 Mingli Hsieh, Department of Biology, Tunghai University, No. 181, Sec. 3, Taichung-Kan Road, Taichung 407, Taiwan, ROCTel.: 886 4 23590121 (Ext. 3242, 25)Fax: 886 4 23590296e-mail: [email protected] Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Abstract Objective – To identify various subtypes of spinocerebellar ataxias (SCAs) among autosomal dominant cerebellar ataxia (ADCA) patients referred to our research center, SCA1, SCA2, SCA3/MJD (Machado–Joseph disease), SCA6, SCA7, SCA8 and SCA12 loci were assessed for expansion of trinucleotide repeats. Patients and methods – A total of 211 ADCA patients, including 202 patients with dominantly inherited ataxia from 81 Taiwanese families and nine patients with sporadic ataxia, were included in this study and subjected to polymerase chain reaction (PCR) analysis. The amplified products of all loci were analyzed on both 3% agarose gels and 6% denaturing urea-polyacrylamide gels. PCR-based Southern blots were also applied for the detection of SCA7 locus. Results – The SCA1 mutation was detected in six affected individuals from one family (1.2%) with expanded alleles of 50–53 CAG repeats. Fourteen individuals from nine families (11%) had a CAG trinucleotide repeat expansion at the SCA2 locus, while affected SCA2 alleles have 34–49 CAG repeats. The SCA3/MJD CAG trinucleotide repeat expansion in 60 affected individuals from 26 families (32%) was expanded to 71–85 CAG repeats. As for the SCA7 locus, there were two affected individuals from one family (1.2%) possessed 41 and 100 CAG repeats, respectively. However, we did not detect expansion in the SCA6, SCA8 and SCA12 loci in any patient. Conclusions – The SCA3/MJD CAG expansion was the most frequent mutation among the SCA patients. The relative prevalence of SCA3/MJD in Taiwan was higher than that of SCA2, SCA1 and SCA7. Citing Literature Volume109, Issue5May 2004Pages 355-360 RelatedInformation