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目的 探讨非综合征型唇腭裂的长链非编码RNA （lncRNA）表达谱。方法 收集3例宁夏回族自治区非综合征型唇腭裂患者和3例健康者的外周静脉血各5 mL，进行lncRNA差异性表达的芯片检测。通过数据分析，筛选出在非综合征型唇腭裂患者和正常对照组中的差异性表达lncRNA，根据生物信息学从中筛选出与非综合征型唇腭裂相关性程度较高的lncRNA:uc021thc.2、TCONS＿00008144、uc001ysg.1、XR＿108307.2、uc002sti.1。通过实时荧光定量PCR对筛选出的lncRNA在非综合征型唇腭裂患者和对照组的外周血以及组织中进一步验证其表达水平。结果 基因芯片数据结果显示非综合征型唇腭裂患者外周血液中，lncRNA发生了差异性表达，差异倍率最高者可达9.5倍；选取的5个目的lncRNA经实时荧光定量PCR验证得出其在非综合征型唇腭裂外周血中表达水平明显高于对照组，除XR＿108307.2在非综合征型唇腭裂患者与对照组组织中的表达水平无明显差异外，其余目的lncRNA在非综合征型唇腭裂组的裂隙缘组织中表达均上调。结论 非综合征型唇腭裂患者外周血及裂隙缘组织与正常对照组相比，lncRNA表达谱发生了较大的变化，这些lncRNA可能在非综合征型唇腭裂发生和发展中发挥重要作用。
Abstract：Objectuve To analyze lncRNA expression profiles in non-syndromic cleft lip and palate analysis.Methods 5 mL of peripheral venousblood samples were collected from 3 non-syndromic cleft lip and palate patients and 3 healthy individuals in Ningxia region,and chip detection performed of lncRNA differential expression.Through data analysis,differentially expressed lncRNAs were screened out between patients with non-syndromic cleft lip and palate and the control group.Then,based on biological information,lncRNAs with a higher degree of relevance to non-syndromic cleft lip and palate were selected:uc021thc.2,TCONS＿00008144,uc001ysg.1,XR＿108307.2,uc002sti.1.The expression levels of the selected lncRNA in peripheral blood and tissues of patients with non-syndromic cleft lip and palate and the control group were further verified by real-time fluorescent quantitative PCR.Results Gene chip data showed that,in the peripheral blood of patients with non-syndromic cleft lip and palate,there was a differential expression of lncRNA,with the highest fold change reaching up to 9.5 times.The expression levels of the five selected lncRNA were significantly higher in the peripheral blood of patients with non-syndromic cleft lip and palate compared with the control group,as verified by real-time fluorescent quantitative PCR.Except for XR＿108307.2,which showed no significant difference in expression levels between the non-syndromic cleft lip and palate group and the control group tissues,the expression of the other target lncRNA was upregulated in the tissues of the non-syndromic cleft lip and palate group.Conclusion Patients with non-syndromic cleft lip and palate showed significant changes in the lncRNA expression profile in peripheral blood and cleft margin tissue compared with normal control groups.
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基本信息:
DOI：10.13885/j.issn.1000-2812.2025.04.005
中图分类号:R782.21
引用信息:
[1]韩雅丽,黄永清.长链非编码RNA在非综合征型唇腭裂中表达的研究[J].兰州大学学报(医学版),2025,51(04):32-39.DOI:10.13885/j.issn.1000-2812.2025.04.005.
基金信息:
国家自然科学基金资助项目（81560181）; 宁夏自然科学基金资助项目（NZ15174）