【摘 要】
：
目的：检测广西壮族自治区先天性甲状腺功能低下(congenital hypothyroidism,CH)患者TPO基因突变谱及突变率,建立TPO基因型与表型间的关系.方法：收集患者外周血样本,提取基因组DNA,应用二代测序分析包括TPO基因在内的11个已知CH相关基因外显子及启动子序列.患者2岁后暂停左旋多巴胺治疗,根据甲功实验鉴别永久或暂时性CH.对新发的变异位点在400例正常人中进行验证.结果
【机 构】
：
广西壮族自治区妇幼保健院遗传代谢中心实验室,南宁,530003 广西壮族自治区妇幼保健院遗传代谢中
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目的：检测广西壮族自治区先天性甲状腺功能低下(congenital hypothyroidism,CH)患者TPO基因突变谱及突变率,建立TPO基因型与表型间的关系.方法：收集患者外周血样本,提取基因组DNA,应用二代测序分析包括TPO基因在内的11个已知CH相关基因外显子及启动子序列.患者2岁后暂停左旋多巴胺治疗,根据甲功实验鉴别永久或暂时性CH.对新发的变异位点在400例正常人中进行验证.结果：二代测序检测192名CH患者,共检出3种TPO突变位点分布于2名患者中.检出的突变位点包括：2个已知的突变c.2422delT和p.R648Q；1个新发的错义突变p.T561M,在400例正常人中进行验证,未发现该变异位点存在.结论：TPO基因在中国广西人群中的突变率约为1％,本研究扩大了TPO基因突变谱,表明TPO在广西CH病因学中的地位不是十分重要.
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