[血管生成素基因变异与中国汉族患者家族性肌萎缩侧索硬化症的关联]
[The association between angiogenin gene variations and familial amyotrophic lateral sclerosis in Chinese Han patients].
作者信息
Zhang Huagang, Zhang Yingshuang, Tang Lu, Zhang Nan, Fan Dongsheng
机构信息
Department of Neurology, Peking University Third Hospital, Beijing 100191, China.
Department of Neurology, Peking University Third Hospital, Beijing 100191, China. Email:
出版信息
Zhonghua Nei Ke Za Zhi. 2015 Feb;54(2):122-4.
OBJECTIVE
To investigate effect of genetic variants in angiogenin (ANG) on the susceptibility of familial amyotrophic lateral sclerosis (FALS) in Han Chinese.
METHODS
Thirty-one FALS families from 2009 to 2012 were collected and ANG gene was screened in the probands using PCR and direct sequencing.
RESULTS
All 31 ALS families were autosomal dominant inheritance. No mutations and single nucleotide polymorphism were detectable in ANG gene in the 31 probands.
CONCLUSION
Our study suggests that ANG gene variations may be rare in Chinese Han FALS.
目的
研究血管生成素（ANG）基因变异对中国汉族家族性肌萎缩侧索硬化症（FALS）易感性的影响。
方法
收集2009年至2012年的31个FALS家系，采用聚合酶链反应（PCR）和直接测序法对先证者的ANG基因进行筛查。
结果
31个ALS家系均为常染色体显性遗传。31名先证者的ANG基因中未检测到突变和单核苷酸多态性。
结论
我们的研究表明，ANG基因变异在中国汉族FALS中可能较为罕见。
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