Research On The Relationship Between Bile Salt Export Pump Gene Mutation And Cholestasis In Idionpathic Infantile Hepatitis

Objective:To screen the BSEP gene in intrahepatic cholestasis of idiopathic infantile hepatitis patients. And investigate the relationship between intrahepatic cholestasis of idiopathic infantile hepatitis and bile salt export pump gene.Methods:A total of115cases of idiopathic infantile hepatitis with intrahepatic cholestasis in case group and60idiopathic infantile hepatitis persons who had no intrahepatic cholestasis in the control group were collected in paediatrics department of the First Affiliated Hospital of Guangxi Medical University from Oct.2009to Feb.2011. The exons of BSEP gene7,8,11,12,14,15,18,21were screening by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP), The PCR products which had abnormal bands in SSCP were sequenced by DNA sequencer. The sequenced results were comared with the normal gen in the Genbank database.Results:Two new cases of heterozygous mutation c.499G>T were detected in the exon7of BSEP gene. This mutation caused genetic code of BSEP protein167th alanine (Ala) be serine (Ser) replacement (p.A167S). There were not mutation found in the other patients and the control group. Conclusions:A167S is a heterozygous nonsense mutation in exon7of BSEP. Which show that A167S maybe play an important role in cholestasis in idiopathic infantile hepatitis and it will give some useful information for the prognosis of cholestasis in the future.