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  5. 7个家族性高胆固醇血症纯合家系致病基因检测及其产前基因诊断

7个家族性高胆固醇血症纯合家系致病基因检测及其产前基因诊断

来源 :2014年第十二届全国脂质与脂蛋白学术会议 | 被引量 : 0次 | 上传用户：hongdou0219
【摘 要】
：
目的:针对有再生育愿望的FH纯合家系明确致病基因突变,进而分别收集再次妊娠母亲胎盘绒毛或羊水脱落细胞提取胎儿DNA,明确胎儿携带该家系内致病突变位点及数目,实现产前基因诊断.方法:1、选取7个有再生育愿望的临床确诊的FH纯合家系;2、取先证者及其父母抗凝血提取基因组DNA;3、PCR扩增测序以排除ApoB 100及PCSK9基因突变;4、重点对LDLR启动子及全部18个外显子进行扩增测序;5、使用
【作 者】
：
徐胜媛 潘晓冬 孙立元 江龙 关啸 杨士伟 刘俊涛 姚凤霞 王绿娅 
【机 构】
：
首都医科大学附属北京安贞医院-北京市心肺血管疾病研究所动脉硬化研究室 中国协和医科大学北京协和医院
【出 处】
：
2014年第十二届全国脂质与脂蛋白学术会议
【发表日期】
：
2014年7期
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目的:针对有再生育愿望的FH纯合家系明确致病基因突变,进而分别收集再次妊娠母亲胎盘绒毛或羊水脱落细胞提取胎儿DNA,明确胎儿携带该家系内致病突变位点及数目,实现产前基因诊断.方法:1、选取7个有再生育愿望的临床确诊的FH纯合家系;2、取先证者及其父母抗凝血提取基因组DNA;3、PCR扩增测序以排除ApoB 100及PCSK9基因突变;4、重点对LDLR启动子及全部18个外显子进行扩增测序;5、使用SWISS-MODEL服务器预测新突变LDLR蛋白三级结构变化;6、母亲再次妊娠时于孕13周或18周时在超声引导下钳取绒毛膜或者行羊膜腔穿刺术抽取羊水,提取胎儿脱落细胞DNA,分别检测胎儿相应家系的LDLR基因突变,并与该家系成员比对,判断胎儿是否为纯合.
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