论文部分内容阅读
目的:探讨基质金属蛋白酶3(matrix metallo proteinase3,MMP3)基因外显子2中Lys45Glu(rs679620)单核苷酸多态性与食管癌遗传易感的关系.方法:Chelex-100法提取DNA模板;PCR-RFLP方法对1127例包括湖北省、河南省食管鳞癌患者与两地正常人对照及河南移民样本的该SNP进行基因分型正常对照人群.结果:河南高发易感移民人群组与湖北正常人群对照组在GG、GA、AA3种基因型频率上均有极显著差异(均P<0.01);河南高发区鳞癌组与湖北正常人群对照组在A/A基因型频率上有显著差异(P<0.05);湖北人群与河南人群在GG和AA基因型频率上差异极显著(43.1%vs54.5%;14.8%vs8.5%,均P<0.01).结论:MMP3基因外显子2中Lys45Glu单核苷酸多态性与食管鳞癌的遗传易感性似有明显相关.
OBJECTIVE: To investigate the relationship between Lys45Glu (rs679620) SNP and genetic predisposition of esophageal cancer in exon 2 of matrix metallo proteinase 3 (MMP3) gene.Methods: The DNA template was extracted by Chelex-100 method. PCR-RFLP method was used to genotype the SNP in 1127 cases of esophageal squamous cell carcinoma in Hubei Province, Henan Province, two normal controls and Henan immigrants samples.Results: The high incidence of susceptible immigrants in Henan and Hubei The frequencies of GG, GA and AA genotypes were significantly different in normal control group (all P <0.01). The frequencies of A / A genotypes in squamous cell carcinoma and normal controls in Hubei were significantly different (P <0.05). There was significant difference in GG and AA genotypes between Hubei and Henan populations (43.1% vs54.5%, 14.8% vs 8.5%, all P <0.01) 2 Lys45Glu single nucleotide polymorphism and esophageal squamous cell carcinoma genetic susceptibility seem to be significantly related.