title: Genetic analysis of SNCA coding mutation in Chinese Han patients with Parkinson disease.
abstract: Parkinson disease (PD) is the second most common progressive neurodegenerative disorder. It is characterized by selective loss of dopamine-producing neurons and aggregation of alpha-synuclein (SNCA) in neurons of particular brain regions. At least 20 loci and 15 disease-causing genes have been identified. Rare missense or multiplication mutations in the SNCA gene have been reported to be involved in some familial and sporadic cases of PD. More recently, two novel pathogenic missense mutations (p.H50Q and p.G51D) were identified in the SNCA gene. To evaluate whether mutation(s) in the coding region of SNCA gene is related to PD in Chinese population, we investigated the SNCA gene in 502 PD patients of Chinese Han ethnicity from Mainland China. No pathogenic mutation was identified in the coding region of the gene. A known G to A transition (c.306 + 66G>A, rs10005233) in the intron 4, which does not potentially change splicing, was identified. Our data indicate that mutations in the coding region of the SNCA gene are not likely to be a common cause of PD in Chinese population.
authors.affiliation: Department of Pharmacy, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
authors.forename: Sheng
authors.initials: S
authors.lastname: Deng
authors.forename: Xiong
authors.initials: X
authors.lastname: Deng
authors.forename: Lamei
authors.initials: L
authors.lastname: Yuan
authors.forename: Zhi
authors.initials: Z
authors.lastname: Song
authors.forename: Zhijian
authors.initials: Z
authors.lastname: Yang
authors.forename: Wei
authors.initials: W
authors.lastname: Xiong
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D002681:China; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D020133:Reverse Transcriptase Polymerase Chain Reaction; D051844:alpha-Synuclein / Q000235:genetics*
chemical_list: C497604:SNCA protein, human; D051844:alpha-Synuclein