Mutation analysis of senataxin gene in sporadic amyotrophic lateral sclerosis
10.3760/cma.j.issn.1006-7876.2010.02.005
- VernacularTitle:散发性肌萎缩侧索硬化患者Senataxin基因的突变检测和分析
- Author:
Huiling XIONG
;
Wenzu CHEN
;
Zhiying WU
;
Zhenhua ZHAO
;
Ning WANG
;
Minting LIN
;
Shenxing MURONG
- Publication Type:Journal Article
- Keywords:
Amyotrophic lateral sclerosis;
RNA helicases;
Mutation;
Polymorphism,genetic
- From:
Chinese Journal of Neurology
2010;43(2):90-92
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the spectrum of senataxin gene mutations in Chinese patients with sporadic amyotrophic lateral sclerosis (SALS). Methods Sixty sporadic SALS patients and 200 unrelated normal individuals were screened for mutations of senataxin by PCR-sequencing methodology. Results Two silent mutations, Asp844Asp and Phe998Phe, were identified in two SALS patients, respectively. They were not found in controls. However, a homology search of senataxin gene in different species revealed that these two amino acids were not evolutionarily conserved, indicating that the mutations were not pathogenic. Additional 19 polymorphisms were detected. Conclusion The identification of two silent mutations and 19 polymorphisms has further broadened the spectrum of mutations and polymorhpisms in senataxin.
