發(fā)布時間：2018-06-20 18:43

  本文選題：先天性巨結(jié)腸 + 轉(zhuǎn)錄因子NKX2-1��； 參考：《鄭州大學(xué)》2012年碩士論文

【摘要】：背景和目的 先天性巨結(jié)腸癥又稱為赫希施普龍病(Hirschsprung's disease,HD)是一種比較常見的小兒消化道發(fā)育畸形,屬于一種先天性疾病。發(fā)病率約為1/5000,存在一定的性別差異,男女比例約為4：1。HD是造成結(jié)腸腸管增粗的原因之一可發(fā)生在近端結(jié)腸,主要位于乙狀結(jié)腸和部分降結(jié)腸；也可發(fā)生在直腸和遠端乙狀結(jié)腸；HD患兒結(jié)腸狹窄段和擴張段兩部分結(jié)腸組織之間有一過渡或移形區(qū),往往呈漏斗形,長約3cm-8cm不等。已有實驗證實了轉(zhuǎn)錄因子NKX2-1基因蛋白在整個腸神經(jīng)系統(tǒng)的發(fā)育中存在。近年來NKX2-1的研究主要集中在甲狀腺、腦及肺組織等有關(guān)神經(jīng)系統(tǒng)發(fā)育疾病過程的研究中,在腸神經(jīng)系統(tǒng)的研究比較少。先天性巨結(jié)腸患兒的腸蠕動功能可能與轉(zhuǎn)錄因子NKX2-1基因蛋白在HD患兒腸管管壁中的表達存在一定的相關(guān)性,本次實驗的目的是應(yīng)用免疫組化SP法和逆轉(zhuǎn)錄聚合酶鏈反應(yīng)(RT-PCR)技術(shù)定性和定量測定轉(zhuǎn)錄因子NKX2-1基因在HD患兒結(jié)腸壁中的表達,以便更加深入的了解HD在分子基礎(chǔ)上的確切發(fā)病機制,為HD疾病的臨床診斷提供可靠的參考。 材料和方法 1應(yīng)用免疫組化SP法觀察30例HD手術(shù)切除標(biāo)本(分別取HD患兒狹窄段、移行段、擴張段結(jié)腸壁全層組織)同時取30例腸套疊患兒手術(shù)切除并具備神經(jīng)節(jié)細胞的全層結(jié)腸組織做為對照組,觀察各組織標(biāo)本中轉(zhuǎn)錄因子NKX2-1基因在HD患兒結(jié)腸壁中的表達情況； 2應(yīng)用逆轉(zhuǎn)錄聚合酶鏈反應(yīng)方法檢測30例新鮮的HD手術(shù)切除標(biāo)本(包括HD患兒狹窄段、移行段、擴張段全層結(jié)腸組織)和30例腸套疊患兒手術(shù)切除的存在神經(jīng)節(jié)細胞的全層結(jié)腸組織做對照組,觀察轉(zhuǎn)錄因子NKX2-1基因在HD患兒結(jié)腸組織中的表達情況； 3統(tǒng)計學(xué)處理：數(shù)據(jù)應(yīng)用SPSS17.0軟件處理,HD患兒各組結(jié)腸組織和正常對照組結(jié)腸組織中轉(zhuǎn)錄因子NKX2-1基因蛋白表達的比較采用兩個獨立樣本的秩和檢驗；HD患兒各組結(jié)腸組織和正常對照組結(jié)腸組織中轉(zhuǎn)錄因子NKX2-1mRNA表達的比較采用兩個獨立樣本的t檢驗或校正t檢驗。檢驗水準(zhǔn)a=0.05。 結(jié)果 1轉(zhuǎn)錄因子NKX2-1在巨結(jié)腸患兒窄段結(jié)腸組織中表達明顯減少,在擴張段結(jié)腸組織中表達正常,在移行段中的表達處于二者之間。 2HD患兒狹窄、移行段結(jié)腸組織中轉(zhuǎn)錄因子NKX2-1基因蛋白和nRNA表達與正常對照組結(jié)腸組織中轉(zhuǎn)錄因子NKX2-1基因蛋白的mRNA表達進行比較,差異有統(tǒng)計學(xué)意義(Z=5.236和2.926,P0.008；t’=19.475和14.429,P0.05),HD患兒擴張段結(jié)腸組織和對照正常結(jié)腸組織中NKX2-1蛋白和mRNA的表達比較,差異無統(tǒng)計學(xué)意義(Z=2.336,P=0.0190.008；t=0.985,P=0.3290.05)。 結(jié)論 1HD患兒狹窄段結(jié)腸壁組織中缺少轉(zhuǎn)錄因子NKX2-1基因的表達是HD發(fā)病的基本病理改變之一。 2轉(zhuǎn)錄因子NKX2-1基因在HD患兒結(jié)腸組織中表達減少是導(dǎo)致HD發(fā)病的原因之一。
[Abstract]:Background and objective Hirschsprung disease (HD), also known as Hirschsprung disease (HD), is a common developmental malformation of digestive tract in children and belongs to a congenital disease. The incidence rate is about 1 / 5 000, there is a certain sex difference, the ratio of male and female is about 4: 1. HD is one of the causes of colon bowel thickening, mainly located in sigmoid colon and part descending colon. It may also occur in children with rectum and distal sigmoid colon HD. There is a transitional or shifting area between the stricture and dilation of colon in children with rectum and distal sigmoid colon. It is usually funnel-shaped, and the length of the colon varies from that of 3cm-8cm. It has been confirmed that NKX 2-1 gene protein exists in the development of the enteric nervous system. In recent years, the study of NKX2-1 is mainly focused on thyroid, brain and lung tissues and other related neurological diseases, but rarely on intestinal nervous system. The intestinal peristalsis function in children with Hirschsprung's disease may be related to the expression of NKX2-1 gene protein in the intestinal wall of HD children. The aim of this study was to determine the expression of NKX2-1 gene in colon wall of HD children by immunohistochemical SP method and reverse transcriptase polymerase chain reaction (RT-PCR). In order to further understand the molecular basis of HD pathogenesis and provide a reliable reference for the clinical diagnosis of HD disease. Materials and methods 1 Immunohistochemical SP method was used to observe 30 HD surgical specimens. 30 patients with intussusception were selected as control group. The expression of NKX2-1 gene in colon wall of HD patients was observed. 2 reverse transcriptase polymerase chain reaction (RT PCR) was used to detect the stenosis and transitional segments of 30 fresh HD surgical specimens (including HD children). The expression of NKX2-1 gene in colon tissue of HD children was observed by observing the expression of NKX2-1 gene in colon tissue of 30 children with intussusception. 3Statistical processing: the expression of NKX2-1 gene protein in colon tissue of HD children was analyzed by SPSS 17.0 software and the expression of NKX2-1 gene protein in colon tissue of HD group was compared with that of normal control group. Two independent samples were used to test the expression of NKX2-1 gene protein. The expression of transcription factor NKX2-1 mRNA in colon tissue of HD children was compared with that in normal control group. The expression of NKX2-1 mRNA in colon tissues of two independent samples was examined by t-test or corrected t-test. The inspection level is 0. 05. Results (1) the expression of NKX2-1 in the narrow segment of Hirschsprung's colon was significantly decreased, the expression of NKX2-1 was normal in the dilated colon, and the expression of NKX2-1 in the transitional segment was between the two. The expression of NKX2-1 gene protein and nRNA in the transitional colon tissue was compared with that in the normal colon tissue. The difference was statistically significant (P 0.008) between the expression of NKX2-1 gene protein and the mRNA expression of NKX2-1 gene protein in the transitional colon tissue. There was no significant difference in the expression of NKX2-1 protein and mRNA between dilated colon tissue and normal colon tissue of children with Tet (19.475) and 14.429 (P 0.05). There was no significant difference in the expression of NKX2-1 protein and mRNA between the two groups. There was no significant difference in the expression of NKX2-1 protein and mRNA between dilated colon tissue and normal colon tissue. There was no significant difference in the expression of NKX2-1 protein and mRNA between the two groups. Conclusion 1 the lack of expression of NKX2-1 gene is one of the basic pathological changes of HD. 2 the expression of NKX2-1 gene decreases in colon tissue of HD children. Is one of the causes of HD.
【學(xué)位授予單位】：鄭州大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2012
【分類號】：R726.5

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