Document Detail


Analysis on the susceptibility genes in two chinese pedigrees with familial Parkinson's disease.
MedLine Citation:
PMID:  21188226     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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 detected in FDP patients in China.
Authors:
Changshui Xu; Jun Xu; Yanmin Zhang; Jianjun Ma; Hideshi Kawakami; Hirofumi Maruyama; Masaki Kamada
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Publication Detail:
Type:  Journal Article     Date:  2010-08-23
Journal Detail:
Title:  Neurology research international     Volume:  2010     ISSN:  2090-1860     ISO Abbreviation:  Neurol Res Int     Publication Date:  2010  
Date Detail:
Created Date:  2010-12-28     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101543314     Medline TA:  Neurol Res Int     Country:  United States    
Other Details:
Languages:  eng     Pagination:  674740     Citation Subset:  -    
Affiliation:
Department of Neurology, Henan Provincial People's Hospital, Zhengzhou 450003, China.
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