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1、系统性红斑狼疮患者外周血单个核细胞超保守区域转录表达水平研究【摘要】目的:探讨超保守区域转录因子与系统性红斑狼疮的相关性。【关键词】红斑狼疮,系统性;单个核细胞;T-UCRs;生物标志物doi:10.3969/j.issn.2095-4174.2014.04.006AnalyzingtheExpressionLeveloftheUltraConservativeRegionofthePeripheralBloodMononuclearCellsinPatientswithSystemicLupusErythematosusQIUJin-jun,SUIWei-guo,CAOC
2、ui-hui,HEHui-yan,ZHANGYang,DAIYong【ABSTRACT】Objective:Systemiclupuserythematosusisasystemicautoimmunediseaseregulatedbyavarietyofgenes・T-UCRisanimportantpartofthelongnoncodingRNAtranscribedfromthe481extremeconservativeregionsinthehumangenome,whichwillchangetheexpressionpatterninmanykindsof
3、cancerssuchasleukemia,livercancer,coloncancer,neurobiastomaandsoon.Method:T-UCRchiptechnologywasusedtoanalyzetheexpressionleveloftheultraconservativeregionoftheperipheralbloodmononuclearcellsin15patientswithsystemiclupuserythematosusand15healthypeople.Results:Comparedthegroupwithsystemiclu
4、puserythematosuswiththehealthycontrolgroup,theexpressionlevelof18T-UCRs(uc.285+,uc.234+,uc.102+,uc.341+,uc.267+,uc.221-,uc.290-anduc.90+)up-regulatedandtheexpressionlevelof29T-UCRsdown-regulated,amongwhichtheexpressionofuc.186-wasthemostsignificantinthecorrespondingultraconservedregion(p=3
5、.29,FC二-38.64861)andHNRNPH1wasitsrelatedgene.Conclusion:GOanalysisshowedthatuc.186-mightbeapotentialbiomarkerfordiagnosisandprognosisofsystemiclupuserythematosus,andHNRNPH1mightbethepotentialkeygeneoflupuserythematosussystem.【Keywords】lupuserythematosus,systemic;mononuclearcells;T-UCRs;bio
6、logicalmarker系统性红斑狼疮(systemiclupuserythematosus,SLE)是一种与弥漫性结缔组织相关的典型的全身性自身免疫病[1],其特征在于发生免疫炎症。SLE的发病机制复杂[2],涉及家族遗传、免疫和环境因素等,可能会导致组织和器官的损害,其中最复杂的是肾功能损害[3]。在人、小鼠和大鼠基因中极度保守的长段非编码基因区域,命名为超保守区域(ul-traconservedregions,UCRs)。UCR为长约200〜779bp的序列,最初于2004年由BejeranoG发现[4-5]。UCR常位于肿瘤相关基因区域或脆性位点。UCR编码的一群
7、特殊的非编码RNA(ncRNA),称为超保守区域转录子(transcribedultraconservedregions,T-UCRs),在人肿瘤中其表达发生变化。T-UCR是长链非编码RNA(long-noncoding,RNA)重要组成部分,转录自人类基因组中481个极度保守区域(ultraconservedregions),在白血病、肝癌、结肠癌、神经母细胞瘤等多种癌症中会改变表达模式[6-9]。T-UCRs参与癌症生物学和肿瘤发生,并有可能作为疾病诊断、预后和预测的指标,以及一类新的治疗靶点。本文通过对SL