ABCA2基因单核苷酸多态性与胆囊结石病的相关性  

The association of single nucleotide polymorphism in human ABCA2 gene with gallstone disease

作　　者：秦俭[1] 吴卫则[1] 牛振民 蒋兆彦[1] 张凯悦 华琪 姜志宏[1] 王艺 黄薇 韩天权[1] 张圣道[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院外科上海消化外科研究所,200025 [2]国家人类基因组南方研究中心,201203

出　　处：《中华肝胆外科杂志》2011年第9期718-721,共4页Chinese Journal of Hepatobiliary Surgery

基　　金：基金项目：国家高技术发展（八六三）科技攻关计划（2002BA711A10）;国家自然科学基金（30271272）

摘　　要：目的检测中国人ABCA2（ATP binding cassetteA2）基因编码区单核苷酸多态性（single nucleotide pblymorphism，SNP），并探讨其与中国汉族人群胆囊结石病的关系。方法采用直接测序法检测ABCA2基因编码区及相邻的部分内含子的序列，以确定中国人ABCA2基因SNPs的位置及类型。对位于编码区的SNPs，采用病例对照方法，在胆囊结石病患者和正常对照者中进行关联研究。结果在16911bp测序长度中，共发现12个SNP，2个位于编码区，10个位于内含子，其中7个为新发现的SNP。各SNPs在胆石病组和对照组中分布差异无统计学意义。结论SNP在不同种族间存在差异。ABCA2基因编码区SNP在胆石病和对照组间分布差异无统计学意义。Objective To investigate the single nucleotide polymorphisms （SNPS） in the coding regions of the human ABCA2 gene and to determine the association of some of these SNPs with gallstone disease in a Chinese population. Methods The exons and part of the introns of the ABCA2 gene were sequenced using a fluorescent labeling automatic method in 24 patients with gallstone disease to identify and characterize the SNPs in a Chinese population. For SNPs in the exons, case-control studies were performed on patients and controls. Results Twelve SNPs were found within a 16911 bp region of the ABCA2 gene. Among them, two were in the exons, ten in the introns and five were novel SNPs. There was no significant difference in the SNPs genotype between the patients and the controls. Conclusions There is an important ethnic difference in the SNPs distribution of the human ABCA2 gene. The distribution of SNPs in the coding regions of the human ABCA2 gene is not significantly different between the patients and the controls.

关 键 词：胆囊结石病 ABCA2基因 单核苷酸多态性 

分 类 号：R575.62[医药卫生—消化系统]