基于RNA seq技术对13-三体综合征脐带血差异性表达环状RNA研究 [中文引用][英文引用]

目的 本研究拟从circRNA为切入点，利用RNA-seq技术从13-三体综合征患者和产检正常的孕妇脐带血中筛选出差异表达的circRNA,为13-三体综合征患者的诊断和治疗提供基础性研究。方法 选择在2017年1月1日至2018年1月1日期间深圳市人民医院确诊为13-三体综合征患者和一名产检结果正常的孕妇作为研究对象，使用RNA-seq技术检测出差异表达的circRNA，进行组间的差异分析，并对circRNA吸附相关的微小RNA（miRNA）进行预测和分析。结果 通过与健康对照组分析可得到，共有8005个差异表达的circRNA具有统计学上的意义，其中表达上调的circRNA有4275个，表达下调的circRNA有3730个，hsa_circ_0002473是位于13号染色体上表达最上调的circRNA，与8种miRNA相互作用。

Objective This study intends to use circRNA as the starting point, and use RNA-seq technology to screen differentially expressed circRNA from the cord blood of patients with 13-trisomy syndrome and pregnant women with normal obstetric examination, so as to provide basic research for the diagnosis and treatment of patients with 13-trisomy syndrome. Methods During the period from January, 2017 to January, 2008, patients diagnosed with 13-trisomy syndrome in Shenzhen people's hospital and a pregnant woman with normal obstetric examination were selected as the study subjects. Differentially expressed circRNA was detected using RNA-seq technique. Differences between groups were analyzed, and related micro RNA (miRNA) adsorbed by cricRNA was predicted and analyzed. Results According to the analysis with healthy control group, a total of 8005 circRNA with differential expression were statistically significant. Among them, 4275 circRNA were up-regulated and 3,730 circRNA were down-regulated. Hsa_circ_0002473 is the most up-regulated circRNA on human chromosome 13, interacting with 8 miRNA. Conclusion There is a differential expression in circRNA between cord blood of patients with 13-trisomy syndrome and that of healthy control group, and hsa_circ_0002473 may be a biomarker for diagnosis and treatment of 13-trisomy syndrome.