| Literature DB >> 21812739 |
Yaping Yan1, Jun Tian, Xiaoyun Mo, Guohua Zhao, Xinzhen Yin, Jiali Pu, Baorong Zhang.
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.Entities:
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Year: 2011 PMID： 21812739 DOI： 10.3109/00207454.2011.598983
Source DB: PubMed Journal: Int J Neurosci ISSN： 0020-7454 Impact factor: 2.292