分类号：R714.55
出版年·卷·期（页码）：2018·10·第1期（15-19）
DOI:
10.13470/j.cnki.cjpd.2018.01.004
-----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13 278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。
-----英文摘要：---------------------------------------------------------------------------------------
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-cell-specific 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. Methods 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 significant difference in 18-trisomy syndrome and normal contrast expression may be a potential prenatal diagnosis of 18-trisomy syndrome markers.
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邹耀霜,晏强,眭维国,欧明林,陈洁晶,汤冬娥,赵鑫,廖秋燕 ,戴勇.环状RNA在孕妇18-三体综合征的鉴定与分析.中国产前诊断杂志,2018,10(1):15-19.
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