杨悦;杨文明;李祥;

• 1:安徽中医药大学研究生院
• 2:安徽中医药大学第一附属医院
• 3:新安医学教育部重点实验室

摘要(Abstract)：

目的采用基因检测技术协助1个肝豆状核变性可疑家系明确诊断。方法首先采集家系所有成员的外周血并提取DNA,然后采用Sanger测序技术对先证者ATP7B基因分析,明确突变位点后,在家系其他成员中进行验证。结果先证者、双胞胎妹妹及其弟弟ATP7B基因存在复合突变c.2304dupC和c.2975C>T,3人均被明确诊断为肝豆状核变性。结论肝豆状核变性是一种罕见神经系统遗传性疾病,目前ATP7B是唯一已知的致病基因。通过使用基因检测技术能提高亚临床和不典型患者的确诊率,为早期临床干预提供依据。

关键词(KeyWords)： 肝豆状核变性;儿童;家系;ATP7B;基因检测

Abstract:

Keywords:

基金项目(Foundation): 国家自然科学基金面上项目(编号:81973825);; 安徽中医药大学第一附属医院优秀青年基金(编号:[2019]118)

作者(Authors): 杨悦;杨文明;李祥;

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