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甲型血友病家系的F8基因检测及产前基因诊断

高云鸽,程天一,赵淑慧,陈必良,杨红,宋婷婷,黎昱,金鑫,张建芳,徐盈

Progress in Obstetrics and Gynecology（2020）

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Abstract
目的:探讨甲型血友病患者及其家属进行基因诊断与产前诊断的临床价值.方法:应用DHPLC、琼脂糖凝胶电泳及Sanger测序法分别对14个血友病家系进行F8致病基因检测,在明确致病突变基础上,对其中6例疑似致病基因携带者进行产前诊断.结果:14例甲型血友病家系中,检出F8基因内含子22倒位6例,F8基因外显子14缺失1例,F8基因编码区移码突变3例,F8基因编码区错义突变4例.通过羊水穿刺产前基因诊断检出异常胎儿4例.结论:通过基因测序的方法对先证者或高度疑似携带者进行基因诊断,明确突变类型及突变位点后对其进行优生优育指导和产前基因诊断,能有效降低甲型血友病的发病率.
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