本文選題：膽道閉鎖 + 全基因組關(guān)聯(lián)性研究　； 參考：《遵義醫(yī)學(xué)院》2014年碩士論文

【摘要】：目的：膽道閉鎖（Biliary atresia，BA）是新生兒阻塞性膽汁淤積的常見疾病，病因未明，其病理改變主要表現(xiàn)為反復(fù)炎癥破壞及組織纖維化，致使肝內(nèi)、肝外膽管進(jìn)行性狹窄，最終導(dǎo)致閉鎖。若出生后三個(gè)月內(nèi)不及時(shí)治療，患兒多在一歲左右夭折，，目前針對(duì)膽道閉鎖患兒較為有效的治療方法為葛西手術(shù)（Kasai手術(shù)），但是由于術(shù)后肝臟組織的持續(xù)破壞，絕大多數(shù)患兒需要進(jìn)行肝移植才能達(dá)到遠(yuǎn)期存活的效果。本實(shí)驗(yàn)參照全基因組關(guān)聯(lián)性研究(Genome-Wide Association Study, GWAS)近期的研究發(fā)現(xiàn)，2q37區(qū)域可能與膽道閉鎖的發(fā)病具有相關(guān)性，參照國外學(xué)者運(yùn)用斑馬魚對(duì)該區(qū)域行基因敲除實(shí)驗(yàn)的成果，依據(jù)Hapmap數(shù)據(jù)庫，挑選2q37GPC1（rs3828336C＞T），以經(jīng)深圳市兒童醫(yī)院普外二科確診為膽道閉鎖患兒的外周靜脈血及術(shù)中肝臟標(biāo)本為實(shí)驗(yàn)材料，對(duì)GPC1（rs3828336C＞T）進(jìn)行基因分型分析，評(píng)估該位點(diǎn)與中國人群膽道閉鎖發(fā)病易感性是否具有相關(guān)性，并從膽道閉鎖病因?qū)W基因?qū)用嫣峁┫鄳?yīng)線索。 方法：采取以醫(yī)院為標(biāo)準(zhǔn)的病例-對(duì)照研究方法，統(tǒng)計(jì)自2010年1月到2013年12月因梗阻性黃疸在深圳市兒童醫(yī)院住院治療，并經(jīng)手術(shù)探查確診為膽道閉鎖的患兒136例作為實(shí)驗(yàn)組，其中男性患兒67例，女性患兒69例，并從來院治療的除去肝膽疾病史的平診患兒中按照與實(shí)驗(yàn)組性別相匹配的原則，隨機(jī)抽取618例作為對(duì)照，其中男性兒童303例，女性兒童315例。分別從膽道閉鎖患兒的外周靜脈肝素抗凝血、術(shù)中肝臟標(biāo)本及健康兒童外周靜脈肝素抗凝血中提取DNA，應(yīng)用Taqman探針基因分型技術(shù)分別對(duì)實(shí)驗(yàn)組和對(duì)照組2q37區(qū)域GPC1（rs3828336C＞T）進(jìn)行基因分型，后期采用SPSS13.0軟件分析數(shù)據(jù)，以此分析該位點(diǎn)單核苷酸多態(tài)性與中國人群膽道閉鎖發(fā)病易感性的相關(guān)性。 結(jié)果：1.所選取病例樣本基本情況：本實(shí)驗(yàn)為病例-對(duì)照研究，所納入研究的實(shí)驗(yàn)組膽道閉鎖男性患兒67例，女性患兒69例，所占百分比各為49.3%和50.7%，對(duì)照組健康男性兒童303例，女性兒童315例，所占百分比各為49.0%和51.0%，經(jīng)統(tǒng)計(jì)學(xué)分析得知，兩組性別無統(tǒng)計(jì)學(xué)差異（P=0.96）。2.針對(duì)GPC1（rs3828336C＞T）分析：本實(shí)驗(yàn)通過分析得知，GPC1（rs3828336C＞T）與中國人群膽道閉鎖患兒發(fā)病易感性無統(tǒng)計(jì)學(xué)差異，與疾病易感性無明顯關(guān)聯(lián)。 結(jié)論：通過本次研究顯示，GPC1（rs3828336C＞T）與中國人群膽道閉鎖發(fā)病易感性未見明顯關(guān)聯(lián)。
[Abstract]:Objective: biliary atresia (Biliary atresia BAA) is a common disease of neonatal obstructive cholestasis with unknown etiology. The pathological changes of Biliary atresia are repeated inflammation destruction and tissue fibrosis, leading to progressive stricture of intrahepatic and extrahepatic bile ducts, and finally to atresia. If there is no timely treatment within three months after birth, most of the children die at the age of one year or so. At present, the more effective treatment for children with biliary atresia is Kasai's operation, but due to the continuous destruction of liver tissue after operation, Most children need liver transplantation to achieve long-term survival. According to the genome-Wide Association Study, GWAS) recent study, we found that the 2q37 region may be related to the pathogenesis of biliary atresia. According to the results of the experiments of zebrafish gene knockout in this region, we used Hapmap database. The blood samples of peripheral vein and liver of children with biliary atresia diagnosed by the second Department of Common Foreign Medicine of Shenzhen Children's Hospital were selected as experimental materials. The genotyping of GPC1(rs3828336C > T was analyzed. To evaluate the correlation between this locus and the susceptibility to biliary atresia in Chinese population, and to provide clues from the gene level of biliary atresia etiology. Methods: from January 2010 to December 2013, 136 children with biliary atresia were admitted to Shenzhen Children's Hospital from January 2010 to December 2013. Among them, 67 cases were male, 69 cases were female, and 618 cases were randomly selected as control group according to the principle of matching sex with experimental group, among them 303 cases were male children. 315 female children. DNA was extracted from peripheral vein heparin anticoagulant of children with biliary atresia, liver samples during operation and peripheral venous heparin anticoagulant blood from healthy children. The 2q37 region GPC1(rs3828336C > T of the experimental group and the control group were genotyped by Taqman probe genotyping technique, respectively. SPSS13.0 software was used to analyze the relationship between the single nucleotide polymorphism and the susceptibility to biliary atresia in Chinese population. The result is 1: 1. The basic information of selected cases: this study was a case-control study. There were 67 male and 69 female children with biliary atresia in the experimental group. The percentages were 49.3% and 50.7%, respectively. 303 healthy male children in the control group were included in the study. The percentages of 315 female children were 49.0% and 51.0%, respectively. The statistical analysis showed that there was no statistical difference between the two groups. According to the analysis of GPC1(rs3828336C > T: this experiment shows that there is no significant difference between GPC1, rs3828336C > T) and the susceptibility of children with biliary atresia in China, but there is no significant correlation between GPC1rs38336C and disease susceptibility. Conclusion: there is no significant correlation between GPC1 rs3828336C > T and the susceptibility to biliary atresia in Chinese population.
【學(xué)位授予單位】：遵義醫(yī)學(xué)院
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2014
【分類號(hào)】：R726.5

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