特发性胆汁淤积性肝炎患儿胆盐输出泵基因突变的检测

目的对特发性胆汁淤积性肝炎患儿的胆盐输出泵(BSEP)基因进行突变筛查。方法特发性胆汁淤积性肝炎患儿90例,采用聚合酶链反应—单链构象多态性(PCR-SSCP)检查结合DNA测序技术,检测BSEP基因的第7、8、11、12、14、15、18、21、26号外显子的突变情况。针对发现的突变位点,在71例健康婴儿中进行筛查以排除基因多态性。结果在2例患儿BSEP基因的第7外显子上检测到相同的杂合突变c.499G>T,导致基因编码的BSEP蛋白的第167位丙氨酸(Ala)被丝氨酸(Ser)所替代(p.A167S)。该位点的突变未在71例健康婴儿中发现,排除了BSEP基因的多态性。结论在特发性胆汁淤积性肝炎患儿中,发现一种新的BSEP基因突变,位点为c.499G>T。

Detection of hepatitis in children with idiopathic cholestatic bile salt export pump gene mutations

Objective To evaluate bile salt export pump gene(BSEP) mutation in children with cholestasis in idiopathic infantile hepatitis.Methods 90 cases of cholestasis in idiopathic infantile hepatitis(case group) were studied by polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) and DNA sequencing technology to detect BSEP gene mutation in exon 7,8,11,12,14,15,18,21,26 in idiopathic infantile hepatitis.71 cases of healthy babies without infantile hepatitis(control group) by DNA sequencing technology to exclude gene polymorphism.Results Exon 7 of BSEP gene in two cases was found the same heterozygous mutation c.499G> T,and BSEP protein lead to the gene encoding the 167 alanine(Ala),serine(Ser) replaced(p.A167S).The sites of mutation is not found in 71 cases of healthy infants,excluding the BSEP gene polymorphism.Conclusion A new BSEP gene mutation is found in children with idiopathic infantile cholestatic hepatitis,sites for the c.499G> T.