Genetic analysis of P387L mutation in SLC18A2 gene in sporadic Parkinson's disease in Chinese Han population / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences)
;
(12): 825-828, 2015.
Article
Dans Anglais
| WPRIM
| ID: wpr-815263
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Maladie de Parkinson
/
Études cas-témoins
/
Chine
/
Spectrométrie de masse MALDI
/
Asiatiques
/
Transporteurs vésiculaires des monoamines
/
Génétique
/
Génotype
/
Mutation
Type d'étude:
Étude observationnelle
Limites du sujet:
Humains
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Journal of Central South University(Medical Sciences)
Année:
2015
Type:
Article
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