title: Mutation analysis of parkin and PINK1 genes in early-onset Parkinson's disease in China.
abstract: A series of 69 Han Chinese PD patients (including 66 index cases and 3 relatives) with early-onset Parkinson's disease (EOPD) were studied to assess the frequency of parkin and PINK1 gene mutations. Mutation analysis of the parkin gene was performed by real-time quantitative polymerase chain reaction (QPCR), denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing. For the PINK1 gene, DHPLC and DNA sequencing were used. Nineteen patients (including one relative) had mutation in the parkin gene, and the c.2T > C (p.M1T) was not reported previously. No mutation of the PINK1 gene was found. The onset age of the patients with mutations in the parkin was earlier than that of those without mutation (p < 0.05). We concluded that mutations in parkin gene are common in Chinese EOPD patients, and mainly are exon rearrangements, while mutation in PINK1 might be not common in Chinese EOPD patients.
authors.affiliation: Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, No. 88 Jiefang Road, Hangzhou, Zhejiang 310009, China. brzhang@zju.edu.cn
authors.forename: Bao-rong
authors.initials: BR
authors.lastname: Zhang
authors.forename: Zheng-xiang
authors.initials: ZX
authors.lastname: Hu
authors.forename: Xin-zhen
authors.initials: XZ
authors.lastname: Yin
authors.forename: Miao
authors.initials: M
authors.lastname: Cai
authors.forename: Guo-hua
authors.initials: GH
authors.lastname: Zhao
authors.forename: Zhi-rong
authors.initials: ZR
authors.lastname: Liu
authors.forename: Wei
authors.initials: W
authors.lastname: Luo
mesh_terms: D000328:Adult; D017668:Age of Onset; D044466:Asian People; D002681:China; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D011494:Protein Kinases / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D055815:Young Adult; D000099202:PTEN-Induced Putative Kinase
chemical_list: D011494:Protein Kinases; D044767:Ubiquitin-Protein Ligases; D000099202:PTEN-Induced Putative Kinase; C111567:parkin protein