[家族性肌萎缩侧索硬化症中SOD1基因突变的鉴定]
[Identification of the mutation of SOD1 gene in a familial amyotrophic lateral sclerosis].
作者信息
Shi Shu-gui, Li Lu-si, Chen Kang-nin, Liu Xing
机构信息
Department of Neurology, Southwest Hospital, Third Military Medical University, Chongqing, 400038 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Apr;21(2):149-52.
OBJECTIVE
To identify the mutation of Cu/Zn superoxide dismutase(SOD1) gene in an amyotrophic lateral sclerosis (ALS) family with unique phenotype.
METHODS
Five exons of SOD1 gene were amplified by PCR. The differences of these products were analyzed by PCR-single strand conformation polymorphism and visualized by silver staining.
RESULTS
Abnormal bands were found in exons 2 and 5 of SOD1 gene in several familial members. DNA sequence analysis verified that a base pair insertion occurred in the codon area of exon 2 and in the intron area of exon 5. And the insertion mutation of exon 2 led to a frameshift mutation and premature stop. It is a new type of SOD1 mutation which may be associated with familial amyotrophic lateral sclerosis.
CONCLUSION
Insertion mutation of exon 2 may be responsible for the disease of an ALS family in Chongqing.
目的
在一个具有独特表型的肌萎缩侧索硬化症（ALS）家系中鉴定铜/锌超氧化物歧化酶（SOD1）基因的突变情况。
方法
采用聚合酶链反应（PCR）扩增SOD1基因的5个外显子。通过PCR-单链构象多态性分析这些产物的差异，并经银染可视化。
结果
在多个家系成员的SOD1基因第2和第5外显子中发现异常条带。DNA序列分析证实，第2外显子的密码子区域和第5外显子的内含子区域发生了一个碱基对插入。第2外显子的插入突变导致移码突变和提前终止。这是一种新型的SOD1突变，可能与家族性肌萎缩侧索硬化症相关。
结论
第2外显子的插入突变可能是重庆一个ALS家系发病的原因。
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