环状RNA在孕妇18-三体综合征的鉴定与分析  

Identification and analysis of circular RNA in pregnant women with trisomy 18

作　　者：邹耀霜 晏强[2] 眭维国[2] 欧明林[2] 陈洁晶[2] 汤冬娥 赵鑫 廖秋燕 戴勇 

机构地区：[1]广西师范大学生命科学学院,广西桂林541004 [2]解放军第一八一医院肾脏科全军器官移植与透析治疗中心广西代谢性疾病研究重点实验室,广西桂林541002 [3]暨南大学第二临床医学院深圳市人民医院临床医学研究中心,广东深圳518020

出　　处：《中国产前诊断杂志（电子版）》2018年第1期15-19,共5页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：广西科技计划(1598012-25);广东省科技计划(2017B020209001);桂林市研究与技术开发计划项目(20170109-34)

摘　　要：目的环状RNA(circular RNA,circRNA)是一种可以调节基因的共价闭合非编码RNA,主要在真核生物中表达。有证据表明,circRNA具有组织细胞特异性表达,并与之生理发育和各种疾病相关。18-三体综合征(18-trisomy syndrome)的侵入性产前筛查对胎儿健康和母亲造成一定的健康风险,因此,创建新的无创产前筛查,寻找18-三体综合征产前诊断的标志物十分重要。方法本研究通过母血进行全基因组测序,选择性分析18-三体综合征孕妇血清中circRNA差异性表达。结果共有13278个circRNA差异性表达,包括5007个上调,8271个下调。结论研究发现hsa_circ_0001649在18-三体综合征和正常人对比表达差异显著,可能成为18-三体综合征潜在的产前诊断的标志物。Objective Circular RNA（circular RNA,circRNA）is a covalently-closed,non-coding RNA that regulates genes and is mainly expressed in eukaryotes.There is evidence that circRNA has tissue-cellspecific expression associated with its physiological development and various diseases.Intrusive prenatal screening of 18-trisomy syndrome poses a certain health risk to fetal health and mothers,thus create a new noninvasive prenatal screening that looks for prenatal trisomy 18 Diagnostic markers are very important.Method In this study,whole genome sequencing was performed in maternal blood to selectively analyze the differential expression of circRNA in serum of pregnant women with 18-trisomy syndrome.Results A total of 13278 circRNAs were differentially expressed,including 5007 up-regulated and 8271 down-regulated.Conclusions The study found that hsa_circ_0001649 has significant difference in 18-trisomy syndrome between normal contrast expression,it may be a potential prenatal diagnosis of 18-trisomy syndrome markers.

关 键 词：circRNA 18-三体综合征 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]