摘要
目的利用多重连接依赖探针扩增(multiplex ligation dependent probe amplification,MLPA)技术探究早期胚胎停育患者遗传学发病原因。方法收集117例早期胚胎停育患者绒毛,应用MLPA技术进行遗传学检测。结果 117例绒毛组织成功检测102例,共检出异常绒毛结果62例,在异常结果中三体综合征34例;三体综合征合并拷贝数异常2例;X单体综合征8例,三倍体10例;染色体拷贝数异常8例。结论 MLPA技术能快速检测染色体异常,在早期胚胎停育的遗传学发病原因探究具有重要的价值。
Objective：Using multiplex ligation dependent probe amplification（MLPA）techniques to explore genetic causes of early embryo damage. Methods：Collected 117 cases of early embryo damage in patients with villi,Using MLPA technique for genetic testing. Results：117 cases of villus tissue were successfully detected in 102 cases,and 62 cases were detected with abnormal,In the abnormal results of 34 cases of trisomy syndrome;trisomy syndrome with copy number of abnormalities in 2 cases;X monomer syndrome in 8 cases,triploid 10 cases;chromosome gene copy number abnormalities in 8 cases. Conlusion：MLPA technology can quickly detect chromosomal abnormalities and have important value in predicting the genetic pathogenesis of early embryo damage.
作者
曾君
王光明
吴本清
王港
张润玲
汤冬娥
戴勇
朱鹏
董粟心
ZENG Jun;WANG Guang-ming;WU Ben-qing;WANG Gang;ZHANG Run-ning;TANG Dong-e;DAI Yong;ZHU Penga;DONG Su-xin(Shenzhen Guangming New District Central Hospital, Shenzhen, 518107, China;Clinical Medical Research center, Shenzhen People＇s Hospital, Shenzhen, 518020, China;Central lab, Shenzhen Pingshan District People＇s Hospital, Shenzhen, 518000, China)
出处
《中国优生与遗传杂志》
2018年第6期130-131,共2页
Chinese Journal of Birth Health & Heredity
基金
广东省科技计划项目
编号:2017B020209001
广东省自然科学基金
编号:2017A030310629
