【摘要】 【目的】研究中国人群MEGSIN基因多态性及其分布特征,并与国外数据库进行比较。【方法】随机选取208例广东地区汉族个体,提取基因组DNA,对包含外显子、外显子-内含子交界区及5’UTR区、3’UTR区的PCR产物进行直接测序,综合正反向结果识别和鉴定基因内SNPs。所得结果在美国国立生物技术信息中心(NCBI)的SNP数据库(dbSNP)中进行查询和比较。【结果】在所有研究对象中共发现24个SNPs,主要位于非编码区;22个为替换型SNP,1个为插入型SNP,另一个为缺失型SNP;其中有6个SNPs在数据库中未报道,有4个数据库已报道的SNPs,在本次研究未能证实在中国人群中存在多态性。【结论】中国汉族人群MEGSIN基因的多态性分布与美国数据库中基于高加索人群的资料存在差异。本研究不仅有利于了解MEGSIN基因结构,且为在中国人群中研究MEGSIN基因相关疾病并最终找到致病位点提供可靠数据。更多还原

【Abstract】 [Objective] To investigate the single nucleotide polymorphisms of the MEGSIN gene in Chinese population and to compare them with the data in the aboard database. [Methods] Genomic DNA was extracted randomly from 208 Chinese Han individuals in Guangdong Province. PCR products spanning the exons, intron-exon boundaries, 5’and 3’ UTR of the gene were sequenced in both directions. The results were compared against the NCBI (National Center for Biotechnology Information U.S.) databases. [Results] Twenty-four SNPs were identified in this study. They were located mostly in the non-coding intronic regions. Among them 22 SNPs were transition, 1 SNP was insertion and another was deletion. There were 6 novel SNPs in our results, and 4 already in the database were not identified in our subjects. [Conclusion] MEGSIN gene polymorphisms vary between Chinese and the Caucasian populations. Results obtained in this study not only help the understanding of the gene′s genomic structures, but also provide useful information for association studies on MEGSIN gene-related diseases with the aim of the eventual identification of the causal variants.更多还原