[在中国一名肌萎缩侧索硬化症患者中鉴定出一种新型超氧化物歧化酶1变体]
[Identification of a novel SOD1 variant in a Chinese patient with amyotrophic lateral sclerosis].
作者信息
Bai Yuan, Zhou Yong'an, Li Jianwei, Geng Junmei, Li Xingxing, Li Zhe, Cheng Jianping, Han Yaxin, Ren Ruirui
机构信息
Graduate School of Shanxi Medical University, Taiyuan, Shanxi 030001, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Dec 10;38(12):1224-1227. doi: 10.3760/cma.j.cn511374-20200903-00684.
OBJECTIVE
To explore the genetic basis for a Chinese patient with amyotrophic lateral sclerosis (ALS).
METHODS
Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA. Genetic variant was identified by whole exome sequencing. Candidate variant was verified by Sanger sequencing of his parents and healthy controls.
RESULTS
The patient was found to harbor a heterozygous c.420C>G (p.Asn140Lys) variant of the SOD1 gene. The same variant was not detected in his parents and 100 healthy controls. The variant has not been included in HGMD, dbSNP and other databases.
CONCLUSION
The c.420C>G variant of the SOD1 gene may underlie the ALS in this patient. Above finding has enriched the spectrum of SOD1 gene variants.
目的
探究一名中国肌萎缩侧索硬化症（ALS）患者的遗传基础。
方法
采集患者及其父母的外周血样本以提取基因组DNA。通过全外显子组测序鉴定遗传变异。通过对其父母及健康对照进行桑格测序验证候选变异。
结果
发现该患者携带SOD1基因的杂合c.420C>G（p.Asn140Lys）变异。其父母及100名健康对照中未检测到相同变异。该变异未被纳入HGMD、dbSNP及其他数据库。
结论
SOD1基因的c.420C>G变异可能是该患者患ALS的病因。上述发现丰富了SOD1基因变异谱。
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