家族性皮质肌阵挛震颤性癫痫CTNND2基因的检测

CTNND2 gene mutations in a familial cortical myoclonic tremor with epilepsy family

目的对家族性皮质肌阵挛震颤性癫痫一家系(Familial cortical myoclonic tremor with epilepsy,FCMTE)的7例患病者的CTNND2(Catenin Delta 2,CTNND2)基因进行筛查。方法利用聚合酶链反应(polymerase chain reaction,PCR)和PCR产物测序法对家系先证者及患病成员进行CTNND2基因突变检测。结果通过直接测序的方法对家系7例患者进行CTNND2基因突变分析,未发现该基因外显子区存在突变。结论该FCMTE家系CTNND2基因未发现突变,认为该基因不是本家系的致病基因。

Objective We examined mutations of Catenin Delta 2 gene(CTNND2),as the candidate gene in a Familial cortical myoclonic tremor with epilepsy(FCMTE)family.Methods Using PCR(polymerase chain reaction,PCR)and PCR product sequencing method,we detected mutations in CTNND2 gene for members of the sick including the proband.Results In seven patients of the family,CTNND2 gene mutation was analyzed by direct sequencing.No mutation was found in CTNND2 gene.Conclusion CTNND2 mutations in the familial cortical myoclonic tremor with epilepsy family has not been discovered.