Genetic analysis of P387L mutation in SLC18A2 gene in sporadic Parkinson's disease in Chinese Han population.
10.11817/j.issn.1672-7347.2015.08.001
- Author:
Jifeng KANG
1
;
Beisha TANG
2
;
Kai LI
1
;
Zhenhua LIU
1
;
Xinxiang YAN
3
;
Jifeng GUO
2
Author Information
1. Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.
2. Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008; State Key Laboratory of Medical Genetics, Changsha 410078; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha 410008, China.
3. Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha 410008, China.
- Publication Type:Journal Article
- MeSH:
Asian Continental Ancestry Group;
genetics;
Case-Control Studies;
China;
Genotype;
Humans;
Mutation;
Parkinson Disease;
genetics;
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization;
Vesicular Monoamine Transport Proteins;
genetics
- From:
Journal of Central South University(Medical Sciences)
2015;40(8):825-828
- CountryChina
- Language:English
-
Abstract:
OBJECTIVE:To investigate whether the mutation of P387L in SLC18A2 gene is a cause for sporadic Parkinson's disease (PD) in Chinese Han population.
METHODS:A total of 931 subjects (455 sporadic PD patients and 476 healthy controls) were enrolled in our study. SLC18A2 P387L was genotyped by matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry (MALDI-TOF MS) and the results were verified by Sanger sequencing. Furthermore, a case-control study was used to investigate the relationship between the mutation and sporadic PD.
RESULTS:There was no mutation in any of the 931 individuals.
CONCLUSION:The P387L mutation in SLC18A2 gene is rare in Chinese Han population, and P387L might not be a cause for Chinese sporadic PD. However, the role of this mutation in PD needs to be further verified through replication studies with large number of subjects and different population.
