致死性侏儒症R248C突变热点的快速检测和四例TD1型高危胎儿的快速产前诊断

来源 :2013中国妇产科学术会议 | 被引量 : 0次 | 上传用户：liuyansua

【摘要】

：

背景针对致死性侏儒症(thanatophoricdysplasia,TD,MIM187600) FGFR3基因的突变热点"p.R248C",建立快速特异的RE法及ARMS/RE法,并应用于后续4例TD1高危胎儿的快速产前诊断,以及时防止患胎出生.方法首先,针对突变热点p.R248C突变前后的序列特点,选择合适的内切酶"AfeI"建立酶切鉴定法.其次,设计双错配碱基特异引物,结合ApaLI酶切法

【作者】

：

郭奕斌李荣潘敬新艾阳唐佳蒋玮莹方群王淑静

【机构】

：

中山大学中山医学院医学遗传室,510080 广州福建医科大学附属二院,362000 泉州

【出处】

：

2013中国妇产科学术会议

【发表日期】

：

2013年4期

【关键词】

：

致死性侏儒症 FGFR3基因 R248C突变 ARMS/RE法快速检测产前基因诊断

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致死性侏儒症R248C突变热点的快速检测和四例TD1型高危胎儿的快速产前诊断

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