rs3129891和rs77005575位點突變基因型同IBD患者腸粘膜中α-防御素的減少表達(dá)相關(guān)
發(fā)布時間:2021-02-25 18:35
研究背景和目的炎癥性腸。↖BD)是腸道的一種慢性特發(fā)性炎癥,根據(jù)臨床和組織病理學(xué)特征,分為潰瘍性結(jié)腸炎(UC)和克羅恩。–D)主要表現(xiàn)形式。目前越來越認(rèn)可的一種觀點認(rèn)為,腸道抗菌肽表達(dá)減少導(dǎo)致的無效細(xì)菌清除是觸發(fā)并維持IBD患者中觀察到的異常免疫應(yīng)答的重要因素。人腸道抗菌肽主要由人腸道α-防御素,少量的溶菌酶和分泌型磷脂酶A2(SPLA2)組成;蛐-表型相關(guān)研究表明,NOD2突變(SNP8,rs2066844;SNP12,rs2066845;SNP13,rs2066847)與回腸CD相關(guān)。在攜帶這些突變的CD患者中,腸粘膜α-防御素的表達(dá)的明顯減少,在存在SNP13突變時減少的水平更加顯著。然而,在結(jié)腸CD和UC患者中,哪些基因變異與抗菌肽的粘膜表達(dá)有關(guān),尚不清楚。本研究的目的是為探討哪些遺傳變異可影響結(jié)腸CD和UC中粘膜抗菌肽的表達(dá)。為了解決這個問題,我們收集結(jié)腸CD和UC患者腸粘膜組織,檢測它們的抗菌肽表達(dá)水平,然后比較這些抗菌肽表達(dá)同22個1BD相關(guān)SNP的基因型之間的相關(guān)性。這些SNP包括rs2066844,rs2066845,rs2066847,rs35261698,...
【文章來源】:南方醫(yī)科大學(xué)廣東省
【文章頁數(shù)】:135 頁
【學(xué)位級別】:博士
【部分圖文】:
圖2rs2066842的質(zhì)譜結(jié)果圖
?結(jié)果???tissue?lysis,?DNA?binding?to?membrane,?DNA?purification.?Genotyping?of?genomic?DNA?for??mutations?of?SNP?rs2066842?was?performed?using?Mass?ARRAY?MALDI-TOF?System??(SEQUENOM)?according?to?the?manufacturer’s?protocol.?Wild?homozygous?CC?and?mutant??heterozygous?CT?were?found.??
圖4rs2172252的質(zhì)譜結(jié)果圖。收集的腸道粘膜組織剪碎后,使用TaKaRa的基因組DNA提??取試劑盒提。模危,包括組織裂解、DNA與膜結(jié)合、DNA純化等步驟。提取的DNA使??用SEQUENOM的MassARRAY?MALDI-TOF方法檢測SNP?rs2172252的位點核酸信息,發(fā)現(xiàn)??AA野生純合型和AT突變雜合型。??Figure?4?Mass?spectrometry?results?of?SNP?rs2172252.?Frozen?biopsies?were?disrupted??mechanically?and?genomic?DNA?was?extracted?using?MiniBEST?Universal?Genomic?DNA??Extraction?kit?Ver.5.0?(TaKaRa)?according?to?the?manufacturer^?protocol.?In?brief,?it?includes??31??
【參考文獻(xiàn)】:
期刊論文
[1]Crucial steps in the natural history of inflammatory bowel disease[J]. Giovanni Latella,Claudio Papi. World Journal of Gastroenterology. 2012(29)
[2]OCTN and CARD15 gene polymorphism in Chinese patients with inflammatory bowel disease[J]. Mei Li, Xiang Gao, Pin-Jin Hu, Department of Gastroenterology, the First Aff iliated Hospital of Zhongshan University, Guangzhou 510089, Guangdong Province, China Chang-Cun Guo, Kai-Chun Wu, Xin Zhang, Department of Gastroenterology, Xijing Hospital of the Fourth Military Medical University, Xi’an 710032, Shaanxi Province, China. World Journal of Gastroenterology. 2008(31)
[3]Single nucleotide polymorphism in the tumor necrosis factor-alpha gene affects inflammatory bowel diseases risk[J]. Lynnette R Ferguson,Claudia Huebner,Ivonne Petermann,Richard B Gearry,Murray L Barclay,Pieter Demmers,Alan McCulloch,Dug Yeo Han. World Journal of Gastroenterology. 2008(29)
[4]NOD2/CARD15基因突變與中國人克羅恩病相關(guān)性的研究[J]. 龍靖華,智發(fā)朝,張迎春,張以洋,鐘長青,姚國鵬,陳正彥,林勇,智佳,關(guān)婧. 胃腸病學(xué). 2007(06)
[5]Family and twin studies in inflammatory bowel disease[J]. Leena Halme,Paulina Paavola-Sakki,Ulla Turunen,Maarit Lappalainen,Martti Frkkil,Kimmo Kontula. World Journal of Gastroenterology. 2006(23)
[6]NOD2/CARD15基因多態(tài)性與克羅恩病患者相關(guān)性研究[J]. 高敏,曹倩,羅靈和,吳敏良,胡偉玲,姒健敏. 中華內(nèi)科雜志. 2005(03)
[7]NOD2 3020insC frameshift mutation is not associated with inflammatory bowel disease in Chinese patients of Hart nationality[J]. Qiu-Sha Guo Bing Xia Yi Jiang Yan Qü Jing Li Department of Internal Medicine,Zhongnan Hospital,Wuhan University,Wuhan 430071,Hubei Province,ChinaSupported by the National Natural Science Foundation of China,No.30370638. World Journal of Gastroenterology. 2004(07)
[8]An analysis of 10218 ulcerative colitis cases in China[J]. Xue-Liang Jiang Department of Gastroenterology,Chinese PLA General Hospital of Jinan Command,Jinan 250031,China Hui-Fei Cui Department of Biochemical Pharmaceutics,Shandong University,Jinan 250012,Shandong Province,China. World Journal of Gastroenterology. 2002(01)
[9]我國炎癥性腸病的流行病學(xué)研究概況[J]. 鄭家駒,史肖華,郭志榮. 中華內(nèi)科雜志. 2009 (04)
本文編號:3051399
【文章來源】:南方醫(yī)科大學(xué)廣東省
【文章頁數(shù)】:135 頁
【學(xué)位級別】:博士
【部分圖文】:
圖2rs2066842的質(zhì)譜結(jié)果圖
?結(jié)果???tissue?lysis,?DNA?binding?to?membrane,?DNA?purification.?Genotyping?of?genomic?DNA?for??mutations?of?SNP?rs2066842?was?performed?using?Mass?ARRAY?MALDI-TOF?System??(SEQUENOM)?according?to?the?manufacturer’s?protocol.?Wild?homozygous?CC?and?mutant??heterozygous?CT?were?found.??
圖4rs2172252的質(zhì)譜結(jié)果圖。收集的腸道粘膜組織剪碎后,使用TaKaRa的基因組DNA提??取試劑盒提。模危,包括組織裂解、DNA與膜結(jié)合、DNA純化等步驟。提取的DNA使??用SEQUENOM的MassARRAY?MALDI-TOF方法檢測SNP?rs2172252的位點核酸信息,發(fā)現(xiàn)??AA野生純合型和AT突變雜合型。??Figure?4?Mass?spectrometry?results?of?SNP?rs2172252.?Frozen?biopsies?were?disrupted??mechanically?and?genomic?DNA?was?extracted?using?MiniBEST?Universal?Genomic?DNA??Extraction?kit?Ver.5.0?(TaKaRa)?according?to?the?manufacturer^?protocol.?In?brief,?it?includes??31??
【參考文獻(xiàn)】:
期刊論文
[1]Crucial steps in the natural history of inflammatory bowel disease[J]. Giovanni Latella,Claudio Papi. World Journal of Gastroenterology. 2012(29)
[2]OCTN and CARD15 gene polymorphism in Chinese patients with inflammatory bowel disease[J]. Mei Li, Xiang Gao, Pin-Jin Hu, Department of Gastroenterology, the First Aff iliated Hospital of Zhongshan University, Guangzhou 510089, Guangdong Province, China Chang-Cun Guo, Kai-Chun Wu, Xin Zhang, Department of Gastroenterology, Xijing Hospital of the Fourth Military Medical University, Xi’an 710032, Shaanxi Province, China. World Journal of Gastroenterology. 2008(31)
[3]Single nucleotide polymorphism in the tumor necrosis factor-alpha gene affects inflammatory bowel diseases risk[J]. Lynnette R Ferguson,Claudia Huebner,Ivonne Petermann,Richard B Gearry,Murray L Barclay,Pieter Demmers,Alan McCulloch,Dug Yeo Han. World Journal of Gastroenterology. 2008(29)
[4]NOD2/CARD15基因突變與中國人克羅恩病相關(guān)性的研究[J]. 龍靖華,智發(fā)朝,張迎春,張以洋,鐘長青,姚國鵬,陳正彥,林勇,智佳,關(guān)婧. 胃腸病學(xué). 2007(06)
[5]Family and twin studies in inflammatory bowel disease[J]. Leena Halme,Paulina Paavola-Sakki,Ulla Turunen,Maarit Lappalainen,Martti Frkkil,Kimmo Kontula. World Journal of Gastroenterology. 2006(23)
[6]NOD2/CARD15基因多態(tài)性與克羅恩病患者相關(guān)性研究[J]. 高敏,曹倩,羅靈和,吳敏良,胡偉玲,姒健敏. 中華內(nèi)科雜志. 2005(03)
[7]NOD2 3020insC frameshift mutation is not associated with inflammatory bowel disease in Chinese patients of Hart nationality[J]. Qiu-Sha Guo Bing Xia Yi Jiang Yan Qü Jing Li Department of Internal Medicine,Zhongnan Hospital,Wuhan University,Wuhan 430071,Hubei Province,ChinaSupported by the National Natural Science Foundation of China,No.30370638. World Journal of Gastroenterology. 2004(07)
[8]An analysis of 10218 ulcerative colitis cases in China[J]. Xue-Liang Jiang Department of Gastroenterology,Chinese PLA General Hospital of Jinan Command,Jinan 250031,China Hui-Fei Cui Department of Biochemical Pharmaceutics,Shandong University,Jinan 250012,Shandong Province,China. World Journal of Gastroenterology. 2002(01)
[9]我國炎癥性腸病的流行病學(xué)研究概況[J]. 鄭家駒,史肖華,郭志榮. 中華內(nèi)科雜志. 2009 (04)
本文編號:3051399
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