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遗传性白内障家系的候选基因突变筛查 被引量：1

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摘要 目的:对散发遗传性白内障患者主要候选基因突变进行筛查。方法:收集2例蓝点状白内障、2例人字缝白内障、1例海马状白内障患者外周血标本,应用蛋白酶K法提取白内障患者血液中的DNA,针对α晶体蛋白(CRYAs)、β晶体蛋白(CRYBs)、γ晶体蛋白(CRYGs)、缝隙连接蛋白-50(GJA8)基因外显子区域,用Primer3.0软件设计引物,用聚合酶链反应(PCR)和DNA测序、BLAST比对等方法检测CRYAs、CRYBs、CRYGs、GJA8基因的突变。结果:在CRYBA1中,发现两名蓝点状白内障患者在第2内含子区域5′端+75位的变异T→G,另外3例患者(表型为人字缝、海马状)未找到该变异。结论:蓝点状白内障患者的变异属于内含子的多态性位点,系该两例患者的一种遗传标记。此5例散发性白内障的致病基因突变,不存在于CRYAs、CRYBs、CRYGs、GJA8基因上,需继续筛查其他候选基因。
作者 范俊丽 郑芳 向飞艳 饶艳 董素芳 宋贵波 陈强
机构地区 武汉大学中南医院检验科
出处 《实用医学杂志》 CAS 北大核心 2011年第9期1649-1651,共3页 The Journal of Practical Medicine
关键词 白内障 基因突变 聚合酶链反应 CRYAs CRYBs CRYGs GJA8
分类号 R776.1 [医药卫生—眼科]
  • 相关文献

参考文献5

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二级参考文献48

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共引文献6

同被引文献12

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实用医学杂志
2011年 第9期

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