analysis on the susceptibility genes in two chinese pedigrees with familial parkinsons disease分析易感基因在两个中国谱系与家族性帕金森病.pdfVIP

Hindawi Publishing Corporation Neurology Research International Volume 2010, Article ID 674740, 4 pages doi:10.1155/2010/674740 Research Article Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson’s Disease Changshui Xu,1 Jun Xu,1 Yanmin Zhang,1 Jianjun Ma,1 Hideshi Kawakami,2 Hirofumi Maruyama,2 and Masaki Kamada2 1 Department of Neurology, Henan Provincial People’s Hospital, Zhengzhou 450003, China 2 Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima 734-8553, Japan Correspondence should be addressed to Changshui Xu, syyxcs@ Received 9 March 2010; Revised 29 April 2010; Accepted 1 July 2010 Academic Editor: Changiz Geula Copyright © 2010 Changshui Xu et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Objective. To screen the susceptibility genes in Chinese pedigrees with early-onset familial Parkinson’s disease (FPD). Methods. Fifty-one genomic DNA samples extracted from two Chinese pedigrees with FPD, the alpha-synuclein genes (SNCA), the leucine- rich repeat kinase 2(LRRK2), PINK1(PTEN-induced putative kinase 1), PARK7(Protein DJ1), PARK2(Parkinson juvenile disease protein 2), the glucocerebrosidase (GBA), and ATP(Ezrin-binding protein PACE-1), were sequenced by the use of polymerase chain reaction (PCR) technique. The gene dose of SNCA was checked. Results. There were only two missense mutations observed, respectively, at exon 5 of LRRK2 and exon 10 of PARK2, and both were enrolled in SNPs. Conclusion. No meaningful mutations could be detected, and other susceptibility genes should be dete