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家族性Dravet综合征家系基因突变分析

Gene mutation of families with familial Dravet syndrome
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摘要 目的探讨家族性Dravet综合征家系基因突变情况。方法90例Dravet综合征患儿及其家属,采用PCR法提取外周血DNA,采用基因测序法和多重连接依赖的探针扩增技术对SCN1A基因突变进行筛查,并采用捕获测序癫痫基因检测包对无SCN1A基因突变的家系进行筛查。结果90例患儿中62例发生SCN1A基因突变,SCN1A基因突变率68.89%,其中错义突变29例,截断突变26例,剪切位点突变5例,SCN1A基因片段重复或缺失2例;有5个家系携带SCN1A基因突变,其中3个家系属SCN1A遗传性杂合突变,来自母源,母亲临床表型是Dravet综合征或热性惊厥,余2个家系测序结果可能为父母一方为SCN1A突变嵌合体,父母临床表型正常。结论家族性Dravet综合征多是SCN1A基因突变导致。 Objective To investigate the gene mutation of families with familial Dravet syndrome(DS). Methods The peripheral blood DNA samples were extracted from 90 children with DS and their families by PCR amplification and gene sequencing. PCR-DNA direct sequencing and multiple junction dependent probe amplification were used to screen the SCN1A gene mutation, and the capture sequencing epileptic gene detection kit was used to screen the families without SCN1A gene mutation. Results SCN1A gene mutation was found in 62 of 90 children, with the mutation rate of 68.89%, including 29 children with missense mutation, 26 with truncated mutation, 5 with shear site mutation and 2 with SCN1A gene fragment repetition or deletion. Five families were found SCN1A gene mutations, 3 of which were maternal SCN1A genetic heterozygous mutation, and their mothers were clinically phenotyped with DS or febrile convulsion, while the other 2 families were found SCN1A mutant chimeras from one of parents and normal clinical phenotype of both parents. Conclusion The familial DS is mostly caused by SCN1A gene mutation.
作者 杨志晓 梅世月 陈国洪 吴春风 申延丰 王媛 王营 张君 YANG Zhixiao;MEI Shiyue;CHEN Guohong;WU Chunfeng;SHEN Yanfeng;WANG Yuan;WANG Ying;ZHANG Jun(Department of Neurology ,Zhengzhou Children^ Hospital, Henan Children's Hospital,Children's Hospital A ffiliated to Zhengzhou University , Zhengzhou 450018, China;Department of Neurology ,Children's Hospital Af filiated to Nanjing Medical University , Nanjing 210008, China;Department of Neurology ,Dalian Children's Hospital, Dalian 116000, China)
出处 《中华实用诊断与治疗杂志》 2019年第8期795-797,共3页 Journal of Chinese Practical Diagnosis and Therapy
基金 国家自然科学基金青年基金(81701125).
关键词 DRAVET综合征 家族性 SCN1A基因突变 Dravet syndrome familial SCN1A gene mutation
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