title: Genetic variants in the RAB7L1 and SLC41A1 genes of the PARK16 locus in Chinese Parkinson's disease patients.
abstract: We performed direct DNA sequencing of the RAB7L1 and SLC41A1 genes within the PARK16 locus in 205 Chinese Parkinson's disease (PD) patients. Three novel heterozygous variants were identified in SLC41A1: c.436A > G (causing p.Lys146Glu), c.1440A > G (causing p.Pro480Pro), and c.552 + 50G > A. These three variants were not present in any of the 210 genetically unrelated healthy controls of the same ethnic origin. No changes were identified in the RAB7L1 gene. Additionally, for the eight core PARK16 SNPs, no significant difference in allele or genotype frequencies was observed between PD patients and controls. Further analysis is required to determine the role of genes within the PARK16 locus in development of PD.
authors.affiliation: Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China. brzhang@zju.edu.cn
authors.forename: Yaping
authors.initials: Y
authors.lastname: Yan
authors.forename: Jun
authors.initials: J
authors.lastname: Tian
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Mo
authors.forename: Guohua
authors.initials: G
authors.lastname: Zhao
authors.forename: Xinzhen
authors.initials: X
authors.lastname: Yin
authors.forename: Jiali
authors.initials: J
authors.lastname: Pu
authors.forename: Baorong
authors.initials: B
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D055815:Young Adult; D020691:rab GTP-Binding Proteins / Q000235:genetics*; D000090802:rab7 GTP-Binding Proteins
chemical_list: D027682:Cation Transport Proteins; C476304:SLC41A1 protein, human; D000090802:rab7 GTP-Binding Proteins; D020691:rab GTP-Binding Proteins