胆道闭锁基因表达谱特点及生物信息学分析

Gene expression profile and bioinformatic analysis of biliary atresia

目的利用基因芯片技术及生物信息学技术对胆道闭锁的基因表达谱进行研究，以进一步阐明该病的发病机制。方法选取我院2007年11月到2008年2月所收治的7例胆道闭锁患儿和2例胆总管囊肿患儿的手术肝脏活检标本，采用Trizol一步法提取胆道闭锁组及胆总管囊肿组肝脏组织的总RNA，利用人全基因组基因表达芯片对其进行基因表达谱扫描，并对所得差异基因利用生物信息平台进行生物信息学分析。结果胆道闭锁与胆总管囊肿相比存在1000余条差异基因；经趋势分析发现，基因主要涉及组织相容性抗原复合物Ⅱ介导的外源性抗原呈递作用以及由此导致的免疫反应、器官组织发育、细胞外基质形成等；经基因间相互作用网络分析，发现LDOC1基因可能在基因表达调控中起着核心调控作用。结论胆道闭锁的发生与MHCⅡ类分子介导免疫反应密切相关，在此过程中LDOC1基因可能起着核心调控作用。

Objective To investigate the gene expression profile of biliary atresia （BA）. Methods Gene expression profiles in the liver tissue of BA and common bile duct of choledochal cysts （CBD） were analyzed and compared by cDNA microarrays. Bioinformatic analysis was carried out to classify the genes. Results There were more than 1000 different genes between BA and CBD. After STC-GO （Series Test Cluster of Gene Ontology）, the different genes mainly included those of immune response, antigen processing and presentation of exogenous peptide antigen via MHC class Ⅱ, muhicellular organismal development and extracellular matrix synthesis. By construction of dynamic-gene net, LDOC1 was found as the most important regulatory module. Conclusions Biliary atresia is associated with immune response of MHC class Ⅱ molecules, LDOC1 is the most important regulatory modules in this process.