肝癌染色体高频缺失区肿瘤相关基因cSNP在HBV患者和正常人群中的多态分布研究

从定位于肝癌高频缺失区的肿瘤相关基因入手,查询单核苷酸多态性(SNP)数据库信息,获得编码区SNP(cSNP)序列,设计引物,根据SNP位点设计寡核苷酸探针,构建SNP芯片．分别从正常人和HBV患者血样中提取基因组DNA,PCR扩增标记含SNP位点的序列,将地高辛标记的PCR产物与SNP芯片杂交．结果表明,正常人基因组与HBV患者基因组肿瘤相关基因SNP之间存在差异,检测到EGFL3(rs947 345),Gas- pase9(rs2 308 950),E2F2(rs3 218 171)三个cSNP位点的基因频率在两组人群中差异显著．HBV患者中存在的高频多态位点可能与其肝癌易感性相关．

Study on the Polymorphism Atribution of cSNP on Cancer-related Genes Located in Loss Regions with High Frequency of HCC between HBV and Healthy Groups

The cancer-related genes harboring in loss regions with high frequency of hepa- tocellular carcinoma(HCC)were selected,the related information was inquired and the cSNP sequences were obtained in the SNP database.Then the appropriate primers and oligonu- cleotide probes were designed according to the SNP sites and the gene chips for the detection of SNPs were constructed.Genomic DNA was extracted from blood samples of patients with HBV infection and healthy controls respectively,the sequences including SNPs were amlified and labeled by Dig-dUTP,then the labeled PCR products were hybridized with the SNP chips. The results confirmed the difference of allele frequencies of three SNPs EGFL3(rs947 345), Caspase9(rs2 308 950)and E2F2(rs3 218 171)was distinct between the patients with HBV infection and the controls,which suggested that these SNPs with high frequency in HBV infec- tors may be associated with susceptibility of HCC.