Mutations in the profilin 1 gene are not common in amyotrophic lateral sclerosis of Chinese origin

被引：21

作者：

Zou, Zhang-Yu

Sun, Qing

Liu, Ming-Sheng

Li, Xiao-Guang

Cui, Li-Ying ^{[1
,2
]}

机构：

[1] Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R China

[2] Peking Union Med Coll, Beijing 100730, Peoples R China

来源：

NEUROBIOLOGY OF AGING | 2013年 / 34卷 / 06期

基金：

中国国家自然科学基金;

关键词：

Amyotrophic lateral sclerosis; Genetics; Profilin; 1;

D O I：

10.1016/j.neurobiolaging.2012.12.024

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease primarily involving the corticospinal tract, brainstem, and anterior cells of the spinal cord. Mutations in the profilin 1 gene (PFN1) were recently described in ALS families. To investigate the spectrum and frequency of PFN1 mutations further, we sequenced all 3 exons of the PFN1 gene in 20 familial ALS index cases, 324 sporadic ALS patients, and 355 healthy control subjects. No nonsynonymous coding variants were identified. Our findings suggest that mutations in the PFN1 gene are not a common cause of ALS in the Chinese population. (C) 2013 Elsevier Inc. All rights reserved.

引用

页码：1713.e5 / 1713.e6

页数：2

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