环状RNA在孕妇18-三体综合征的鉴定与分析
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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.
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.
引文
[1]邓齐文,许晔琼,王书奎.长链非编码RNA多态性与肿瘤相关性的研究[J].医学研究生学报,2014,27(3):303-306.
[2]张腾飞,黄修燕.环状RNA在肿瘤中的研究近况[J].世界肿瘤研究,2017,7(4):99-104.
[3]Sanger HL,Klotz G,Riesner D,et al.Viroids are singlestranded covalently closed circular RNA molecules existing as highly base-paired rod-like structures[J].Proc Natl Acad Sci USA,1976,73(11):3852-3856.
[4]Nigro JM,Cho KR,Fearon ER,et al.Scrambled exons[J].Cell,1991,64(3):607-613.
[5]Capel B,Swain A,Nicolis S.Circular transcripts of the testis-determining gene Sry in adult mouse testis[J].Cell,1993,73(5):1019-1030.
[6]刘军强,吴慧,朱诗琪,等.环状RNA研究进展[J].江苏师范大学学报(自然科学版),2016,34(01):47-52.
[7]Chen B.Circular RNA:An emerging non-coding RNA as a regulator and biomarker in cancer[J].Cancer Lett,2018,1(418):41-50.
[8]Torres EM,Williams BR,Amon A.Aneuploidy:Cells losing their balance[J].Genetics,2008,179(2),737–746.
[9]王培林.遗传病学[M].北京:人民卫生出版社,2000:771-772.
[10]吴梓梁.小儿内科学[M].郑州:郑州大学出版社,2003,1183-1190.
[11]Qiu JJ,Liu YN,Ren ZR,et al.Dysfunctions of mitochondria in close association with strong perturbation of long noncoding RNAs expression in down syndrome[J].Int J Biochem Cell Biol,2017,92:115-120.
[12]潘正军,孟广红.生物体内RNA的种类和功能概述[J].济南职业学院学报,2005,6:51-53.
[13]Umu SU,Langseth H,Bucher-Johannessen C,et al.A comprehensive profile of circulating RNAs in human serum[J].RNA Biol,2017,8:1-9.
[14]Li P,Chen S,Chen H,et al.Using circular RNA as a novel type of biomarker in the screening of gastric cancer[J].Clin Chim Acta,2015,444:132-136.
[15]Li WH.Decreased expression of hsa_circ_00001649in gastric cancer and its clinical significance[J].Dis Markers,2017,2017:4587698.
[16]Yao T,Chen Q,Fu L,et al.Circular RNAs:Biogenesis,properties,roles,and their relationships with liver diseases[J].Hepatol Res,2017,47(6):497-504.
[17]Qin M,Liu G,Huo X,et al.Hsa_circ_0001649:A circular RNA and potential novel biomarker for hepatocellular carcinoma[J].Cancer Biomark,2016,16(1):161-169.
[18]Hibaoui Y,Grad I,Letourneau A,et al.Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy21[J].EMBO Mol Med,2014,6(2):259-277.
[19]Liu B,Filippi S,Roy A,et al.Stem and progenitor cell dysfunction in human trisomies[J].EMBO Rep,2015,16(1):44-62.
[20]Morris JK,Savva GM.The risk of fetal loss following aprenatal diagnosis of trisomy 13or trisomy 18[J].Am J Med Genet A,2008,146A(7):827-832.
[21]Witters G,Van Robays J,Willekes C,et al.Trisomy 13,18,21,Triploidy and Turner syndrome:The 5T’s.Look at the hands[J].Facts Views Vis Obgyn,2011,3(1):15-21.
[22]Volk M,Maver A,Hod6i c′A,et al.Transcriptome profiling uncovers potential common mechanisms in fetal trisomies 18and 21[J].OMICS,2017,21(10):565-570.
[23]Kartha RV,Subramanian S.Competing endogenous RNAs(ceRNAs):new entrants to the intricacies of generegulation[J].Frontiers in genetics,2014,5:8.
[24]Koide K,Slonim DK,Johnson KL,et al.Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18[J].Hum Genet,2011,129(3):295-305.
[25]Fullgrabe J,Hajji N,Joseph B.Cracking the death code:apoptosis-related histone modifications[J].Cell Death Differ,2010,17(8):1238-1243.
[2]张腾飞,黄修燕.环状RNA在肿瘤中的研究近况[J].世界肿瘤研究,2017,7(4):99-104.
[3]Sanger HL,Klotz G,Riesner D,et al.Viroids are singlestranded covalently closed circular RNA molecules existing as highly base-paired rod-like structures[J].Proc Natl Acad Sci USA,1976,73(11):3852-3856.
[4]Nigro JM,Cho KR,Fearon ER,et al.Scrambled exons[J].Cell,1991,64(3):607-613.
[5]Capel B,Swain A,Nicolis S.Circular transcripts of the testis-determining gene Sry in adult mouse testis[J].Cell,1993,73(5):1019-1030.
[6]刘军强,吴慧,朱诗琪,等.环状RNA研究进展[J].江苏师范大学学报(自然科学版),2016,34(01):47-52.
[7]Chen B.Circular RNA:An emerging non-coding RNA as a regulator and biomarker in cancer[J].Cancer Lett,2018,1(418):41-50.
[8]Torres EM,Williams BR,Amon A.Aneuploidy:Cells losing their balance[J].Genetics,2008,179(2),737–746.
[9]王培林.遗传病学[M].北京:人民卫生出版社,2000:771-772.
[10]吴梓梁.小儿内科学[M].郑州:郑州大学出版社,2003,1183-1190.
[11]Qiu JJ,Liu YN,Ren ZR,et al.Dysfunctions of mitochondria in close association with strong perturbation of long noncoding RNAs expression in down syndrome[J].Int J Biochem Cell Biol,2017,92:115-120.
[12]潘正军,孟广红.生物体内RNA的种类和功能概述[J].济南职业学院学报,2005,6:51-53.
[13]Umu SU,Langseth H,Bucher-Johannessen C,et al.A comprehensive profile of circulating RNAs in human serum[J].RNA Biol,2017,8:1-9.
[14]Li P,Chen S,Chen H,et al.Using circular RNA as a novel type of biomarker in the screening of gastric cancer[J].Clin Chim Acta,2015,444:132-136.
[15]Li WH.Decreased expression of hsa_circ_00001649in gastric cancer and its clinical significance[J].Dis Markers,2017,2017:4587698.
[16]Yao T,Chen Q,Fu L,et al.Circular RNAs:Biogenesis,properties,roles,and their relationships with liver diseases[J].Hepatol Res,2017,47(6):497-504.
[17]Qin M,Liu G,Huo X,et al.Hsa_circ_0001649:A circular RNA and potential novel biomarker for hepatocellular carcinoma[J].Cancer Biomark,2016,16(1):161-169.
[18]Hibaoui Y,Grad I,Letourneau A,et al.Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy21[J].EMBO Mol Med,2014,6(2):259-277.
[19]Liu B,Filippi S,Roy A,et al.Stem and progenitor cell dysfunction in human trisomies[J].EMBO Rep,2015,16(1):44-62.
[20]Morris JK,Savva GM.The risk of fetal loss following aprenatal diagnosis of trisomy 13or trisomy 18[J].Am J Med Genet A,2008,146A(7):827-832.
[21]Witters G,Van Robays J,Willekes C,et al.Trisomy 13,18,21,Triploidy and Turner syndrome:The 5T’s.Look at the hands[J].Facts Views Vis Obgyn,2011,3(1):15-21.
[22]Volk M,Maver A,Hod6i c′A,et al.Transcriptome profiling uncovers potential common mechanisms in fetal trisomies 18and 21[J].OMICS,2017,21(10):565-570.
[23]Kartha RV,Subramanian S.Competing endogenous RNAs(ceRNAs):new entrants to the intricacies of generegulation[J].Frontiers in genetics,2014,5:8.
[24]Koide K,Slonim DK,Johnson KL,et al.Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18[J].Hum Genet,2011,129(3):295-305.
[25]Fullgrabe J,Hajji N,Joseph B.Cracking the death code:apoptosis-related histone modifications[J].Cell Death Differ,2010,17(8):1238-1243.