单基因表达异常与胆道闭锁发病的研究进展

Research advances of abnormal expression of single gene and pathogenesis of biliary atresia

胆道闭锁是以肝内、外胆管进行性破坏和肝纤维性梗阻为特征的一种严重疾病,手术是目前唯一的治疗方式。胆道闭锁的发生与地区及人种有关,遗传易感因素是胆道闭锁病因之一。本文总结了近年来单基因表达异常与胆道闭锁关系的研究进展,并分别从JAG1、PKHD1、ADD3、PROM1及GPC1等基因的表达异常与胆道闭锁发病的关系进行综述。

Biliary atresia(BA)is a severe disease characterized by progressive destruction of intrahepatic and extrahepatic bile ducts and liver fibrotic obstruction.The occurrence of BA is correlated with region and race.Genetic susceptibility factors are one of the causes of BA.This review summarized the latest researches of the relationship between abnormal expression of single gene and BA and focused upon the relationship between the abnormal expression of JAG1,PKHD1,PROM1,ADD3 and GPC1 and the pathogenesis of BA.