[一个阵发性运动诱发性运动障碍中国家系的PRRT2基因突变分析]
[Analysis of PRRT2 gene mutations in a Chinese family affected with paroxysmal kinesigenic dyskinesia].
作者信息
Zhang Hui, Shi Weili, Xiao Hai, Wu Dong, Qin Litao, Liao Shixiu
机构信息
Henan Medical Genetics Institute, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Feb;33(1):61-3. doi: 10.3760/cma.j.issn.1003-9406.2016.01.015.
OBJECTIVE
To screen potential mutations of PRRT2 gene in a Chinese family affected with paroxysmal kinesigenic dyskinesia (PKD).
METHODS
Polymerase chain reaction, DNA sequencing and restriction endonuclaese analysis were used to analyze all members of the family.
RESULTS
A heterozygous mutation c.649dupC was identified in the PRRT2 gene in all patients, while no similar mutation was found in healthy members from the family.
CONCLUSION
The c.649dupC mutation of the PRRT2 gene probably underlies the PKD in this family. Prenatal diagnosis can reduce the risk for further birth of affected children for this family.
目的
筛选一个患发作性运动诱发性运动障碍（PKD）的中国家系中PRRT2基因的潜在突变。
方法
采用聚合酶链反应、DNA测序和限制性内切酶分析对该家系所有成员进行分析。
结果
在所有患者的PRRT2基因中鉴定出一个杂合突变c.649dupC，而该家系的健康成员中未发现类似突变。
结论
PRRT2基因的c.649dupC突变可能是该家系PKD的病因。产前诊断可降低该家系再次生育患病儿童的风险。
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