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International Journal of Neuroscience Volume 121, 2011 - Issue 11
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Research Article

Genetic Variants in the RAB7L1 and SLC41A1 Genes of the PARK16 Locus in Chinese Parkinson's Disease Patients

Yaping YanDepartment of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China
,
Jun TianDepartment of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China
,
Xiaoyun MoExperimental Center, The People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China
,
Guohua ZhaoDepartment of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China
,
Xinzhen YinDepartment of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China
,
Jiali PuDepartment of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China
&
Baorong ZhangDepartment of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, ChinaCorrespondencebrzhang@zju. edu.cn
 show all
Pages 632-636 | Received 24 May 2011, Published online: 04 Aug 2011
 
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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.

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