【摘 要】
：
目的 先天性白内障占儿童致盲性眼病的第二位,遗传性白内障约占1/3,其中常染色体显性遗传性白内障最为多见.本研究探索使用DNA测序技术对河南省一个5代常染色体显性遗传性核性白内障家系候选致病基因进行突变筛查和产前诊断的可行性.方法 签署知情同意书后,采集家系成员的外周静脉血,提取基因组DNA.选择国内外已报道的与先天性核性白内障发生相关的4个晶状体蛋白基因(CRYBA1/A3、CRYBB1、CRY
【机 构】
：
郑州大学第一附属医院产前诊断中心 郑州 450052
【出 处】
：
中华医学会2012年医学遗传学年会暨全国第十一次医学遗传学学术会议
论文部分内容阅读
目的 先天性白内障占儿童致盲性眼病的第二位,遗传性白内障约占1/3,其中常染色体显性遗传性白内障最为多见.本研究探索使用DNA测序技术对河南省一个5代常染色体显性遗传性核性白内障家系候选致病基因进行突变筛查和产前诊断的可行性.方法 签署知情同意书后,采集家系成员的外周静脉血,提取基因组DNA.选择国内外已报道的与先天性核性白内障发生相关的4个晶状体蛋白基因(CRYBA1/A3、CRYBB1、CRYBB2和CRYGD)为候选基因,聚合酶链反应扩增候选基因外显子及其旁侧非编码区序列,对扩增产物进行测序和序列分析,寻找突变位点,并行孕早期绒毛取样对一名高危胎儿进行产前基因诊断.结果 该家系中先证者及其他患者CRYBB1基因第4外显子发生c.387C＞A杂合突变,导致其编码的晶状体βB1蛋白第129位氨基酸由丝氨酸转变为精氨酸(p.S129R),孕11周时行产前诊断的胎儿未携带该突变,出生后随访证实为一健康个体.结论 本研究通过筛查4种晶状体蛋白基因突变,发现CRYBB1基因c.387C＞A(p.S129R)突变为该核性先天性白内障家系的致病突变后,针对该位点进行了胎儿产前诊断,基因诊断显示胎儿未携带突变,完成了国内首例CRYBB1基因突变所致核性先天性白内障家系的产前基因诊断,及早减轻了孕妇及其家属的心理压力,是一种成功的尝试.
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