广东人AGTR2突变热区的SNPs位点分析

目的]研究广东汉族人群中血管紧张素Ⅱ2型受体基因(AGTR2)是否存在特有的SNPs位点.方法]收集121例祖籍广东的汉族人.取外周静脉血以酚/氯仿法分离白细胞提取基因组DNA,根据AGTR2基因已知的SNPs的位点分布特点设计两对引物,PCR扩增目的片段.对PCR产物进行SSCP分析,银染显色.根据染色结果,随机抽取部分带型不同的PCR产物直接测序,对测序结果通过B1ASTn软件和ClustalW软件在线分析.结果]发现5个SNPs位点:G300663A,A300672T,A300818T,G301404T和A301410G,除A301410G与GenBank dbSNP数据库中的位点(rs5194)相同外,其余4个位点为新发现的SNPs位点.结论]AGTR2是一个高突变的基因,广东人AGTR2的SNPs位点多,与其他人群显著不同.

SNPs in the Hotspot Regions of AGTR2 in Cantonese

Objective The goal of the study was to explore the SNPs in the hotspot regions of AGTR2 in Cantonese. Methods We collected peripheral blood samples from 121 persons. All of them were Han people resided for generations in Guangdong province. DNA samples were extracted us-ing phenol-choloride method. On the basis of data mining the characteristic distribution of major cSNPs (single nucleotide polymorphisms existing in mRNA sequence) of AGTR2 reported in SNP database of NCBI, we designed two pairs of primers for PCR amplification. Each PCR product was ana-lyzed by SSCP. Parts of PCR products from distinguished banding patterns were sequenced directly. SNPs data analyzing was performed using BLASTn software and databases of NCBI. Moreover, all the sequences were aligned using the web based software Clustal-W. Results We acquired 5 SNPs: G300663A, A300672T, A300818T, G301404T and A301410G. Among these variances, A301410G is the only one consistent with rs5194 in GenBank dbSNP database. The rest 4 SNPs are special in Can-tonese. Conclusion AGTR2 is a gene with high mutation rate and sequence diversity, and when com-pared with reported SNPs data, gene variation of AGTR2 in Cantonese is distinguished to other peo-ple.