摘要
目的探讨特发性婴儿肝炎肝内胆汁瘀积患儿胆盐输出泵(BSEP)基因的突变情况。方法收集2008年10月-2010年2月就诊于广西医科大学第一附属医院儿科的婴儿胆汁瘀积性肝炎患儿81例(病例组),48例无肝内胆汁瘀积、肝功能正常的婴儿为对照组。提取病例组和对照组儿童外周血DNA,采用聚合酶链反应-单链构象多态性(PCR-SSCP)和DNA测序技术检测BSEP基因上2、3、4、5、6、9、10、16、17、23、24外显子基因多态性,分析BSEP基因多态性与特发性婴儿肝炎肝内胆汁瘀积之间的关系。结果在外显子24上检测到BSEP A1028A同义突变,编码的氨基酸未改变,均为丙氨酸;其他10个外显子均未发现异常突变。A1028A基因型在病例组,CC型53例(占65.4%),TC型28例(占34.6%),C等位基因频率为82.7%;对照组中CC型32例(占66.7%),TC型16例(占33.3%),C等位基因频率为83.3%。二组基因型差异经Fisher's精确概率法检验,差异无统计学意义(P>0.05);等位基因频率经Fisher's精确概率法检验,差异亦无统计学意义(P>0.05)。结论尚不能认为BSEP A1028A是特发性婴儿肝炎肝内胆汁瘀积的一个危险因素。BSEP A1028A与特发性婴儿肝炎肝内胆汁瘀积发生的易感性无关。
Objective To evaluate the bile salt export pump（BSEP） gene polymorphisms in the pathogenesis of intrahepatic cholestasis in idiopathic infantile hepatitis. Methods The genomic DNA was obtained from peripheral blood of 81 patients with idiopathic infantile cholestasis as case group,who hospitalized in the Department of Pediatrics of the First Affiliated Hospital of Guangxi Medical University from Oct. 2008 to Feb. 2010, and 48 normal liver function infants without intrahepatie eholestasis as control group. The BSEP gene 2,3,4,5,6,9,10, 16,17,23,24 exons polymorphism were genotyped by polymerase chain reaction - single strand conformation polymorphism（ PCR -SSCP） and sequenced. The statistical relationship between BSEP gene polymorphisms and intrahepatic cholestasis in idiopathic infantile hepatitis was analyzed, Results Synonymous mutations BSEP A1028A were detected on exon 24 ,coded amino acid was not changed and they were alanine （Ala） ;abnormal mutations were not found in the other 10 exons. In case group, A1028A genotype CC had 53 cases, accounting for 65.4% , genotype TC had 28 cases ,accounting for 34.6% ,and the C allele frequency was 82.7% ;in the control group,the genotype CC had 32 cases, accounting for 66.7 %, the genotype TC had 16 cases, accounting for 33.3 %, and the C allele frequency was 83.3 %. Genotypic differences in the 2 groups analyzed by the Fisher＇s exact test was not significant （P 〉 0. 05 ） ;the difference of allele frequency between the both groups analyzed by the Fisher＇s exact test was not significant（ P 〉 0.05 ）. Conclusions This study suggest that BSEP A1028A is not a risk factor for idiopathic intrahepatic cholestasis in infants with hepatitis. BSEP A1028A synonymous mutations are not associated with susceptibility to the pathogenesis of idiopathic infant cholestasis.
出处
《实用儿科临床杂志》
CAS
CSCD
北大核心
2011年第19期1497-1499,1505,共4页
Journal of Applied Clinical Pediatrics
基金
广西科学研究与技术开发计划项目(桂科攻0816004-6)
广西2010年研究生教育创新计划资助项目(2010105981002M192)
关键词
胆盐输出泵基因
肝内胆汁瘀积
单链构象多态性分析
婴儿
bile salt export pump gene
intrahepatic cholestasis
single strand conformation polymorphism analysis
infant
