title: Exon dosage analysis of parkin gene in Chinese sporadic Parkinson's disease.
abstract: Parkin gene mutations are by far the most common mutations in both familial Parkinson's disease (PD) and sporadic PD. Approximately, 50% of parkin mutations is exon dosage mutations (i.e., deletions and duplications of entire exons). Here, we first established a MLPA assay for quick detection of parkin exon rearrangements. Then, we studied parkin exon dosage mutations in 755 Chinese sporadic PDdisease patients using the established MLPA assay. We found that there were 25 (3.3%) patients with exon dosage alterations including deletions and duplications, 20 (11.4%) patients with exon rearrangements in 178 early-onset patients, and 5 (0.86%) patients with exon rearrangement mutations in 579 later-onset patients. The percentage of individuals with parkin dosage mutations is more than 33% when the age at onset is less than 30 years old, but less than 7% when the age at onset is more than 30. In these mutations, deletion is the main mutational style, especially in exon 2-5. Our results indicated that exon dosage mutations in parkin gene might be the main cause for sporadic PD, especially in EOP.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, PR China; State Key Laboratory of Medical Genetics, Changsha, 410008 Hunan, PR China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha, 410008 Hunan, PR China; Neurodegenerative Disorders Research Center, Central South University, Changsha, 410008 Hunan, PR China.
authors.forename: Ji-Feng
authors.initials: JF
authors.lastname: Guo
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, PR China.
authors.forename: Xiao-Li
authors.initials: XL
authors.lastname: Dong
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, PR China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Xu
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, PR China.
authors.forename: Nan
authors.initials: N
authors.lastname: Li
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, PR China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha, 410008 Hunan, PR China; Neurodegenerative Disorders Research Center, Central South University, Changsha, 410008 Hunan, PR China.
authors.forename: Xin-Xiang
authors.initials: XX
authors.lastname: Yan
authors.affiliation: State Key Laboratory of Medical Genetics, Changsha, 410008 Hunan, PR China.
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, PR China; State Key Laboratory of Medical Genetics, Changsha, 410008 Hunan, PR China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha, 410008 Hunan, PR China; Neurodegenerative Disorders Research Center, Central South University, Changsha, 410008 Hunan, PR China. Electronic address: bstang7398@163.com.
authors.forename: Bei-Sha
authors.initials: BS
authors.lastname: Tang
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People; D016022:Case-Control Studies; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D060885:Multiplex Polymerase Chain Reaction; D009154:Mutation; D010300:Parkinson Disease / Q000378:metabolism*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics / Q000378:metabolism*; D055815:Young Adult
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein
keywords: Exon rearrangement; Gene mutation; MLPA; Parkin gene; Parkinson’s disease