title: Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease.
abstract: Parkinson's disease (PD) is a common neurodegenerative disorder of complex etiology. Mounting evidence indicates that genetic abnormalities play an important role in the pathogenesis of PD. To date, at least 20 genetic loci and 15 disease-causing genes for parkinsonism have been identified, as well as some susceptibility genes conferring risk to PD. More recently, mutations in the RAB39B gene (RAB39B, member RAS oncogene family) have been reported to cause X-linked intellectual disability and early-onset PD with α-synuclein pathology. To evaluate whether variants in the RAB39B gene are related to PD in Chinese Han population, we conducted genetic analysis of the RAB39B gene in 502 patients with PD from Mainland China. No pathogenic mutation or variant was identified in the coding region or exon-intron boundaries of the gene. Our results suggest that mutation(s) in the coding region of the RAB39B gene plays little or no role in the development of PD in Chinese population.
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Lamei
authors.initials: L
authors.lastname: Yuan
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Xiong
authors.initials: X
authors.lastname: Deng
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Zhi
authors.initials: Z
authors.lastname: Song
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Zhijian
authors.initials: Z
authors.lastname: Yang
authors.affiliation: Key Laboratory of Genetics and Birth Health of Hunan Province, Family Planning Institute of Hunan Province, Changsha, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Ni
authors.affiliation: Key Laboratory of Genetics and Birth Health of Hunan Province, Family Planning Institute of Hunan Province, Changsha, China. Electronic address: chenyong0008@sina.com.
authors.forename: Yong
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China. Electronic address: hdeng008@yahoo.com.
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
mesh_terms: D044466:Asian People; D002681:China; D005091:Exons / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation; D016366:Open Reading Frames / Q000235:genetics; D010300:Parkinson Disease / Q000235:genetics*; D020691:rab GTP-Binding Proteins / Q000235:genetics*
chemical_list: C547812:Rab39B protein, human; D020691:rab GTP-Binding Proteins
keywords: Coding region; Mutation; Parkinson's disease; RAB39B gene