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目的:探讨X线交叉互补基因1(XRCC 1)外显子C 26304T、G 27466A和G 28152A三处最常见的单核苷酸多态性(sing le nucleotide po lym orph ism,SNP)与乳腺癌的关系。方法:以自然人群为基础的病例对照研究方法,对84例乳腺癌患者组和以1∶3成组频数匹配原则获得的252例对照组进行研究,XRCC 1 C 26304T、G 27466A和G 28152A SNPs基因分型采用聚合酶链反应-限制性内切酶片段长度多态性(po lym erase chain reaction-restriction fragm ent length po lym orph ism,PCR-RFLP)分析方法。单体型分布采用EH linkage softw are 1.2分析软件进行预测和比较。结果:乳腺癌患者组和对照组吸烟状况分布差异有显著性,病例组曾经或现在吸烟个体比例7.1%明显高于对照组2.0%(P<0.05),性别、年龄、饮酒状况及一二级亲属家族恶性肿瘤史等基本特征因素分布差异均无显著性(P>0.05)。C 26304T、G 27466A和G 28152A SNPs多态基因型和多态等位基因分布在两组间分布差异均无显著性(P>0.05)。经上述因素校正后,XRCC 1 SNPs与乳腺癌发病没有显著相关关系(P>0.05)。应用EH linkage softw are 1.2单体型分析软件显示,XRCC 1 SNPs在各组内均存在连锁不平衡现象,CGG、CGA、CAG和TGG是最常见的4类单体型。单体型组间分布同样不存在显著性差异(P>0.05)。结论:XRCC 1 C 26304T、G 27466A和G 28152A SNPs与乳腺癌的风险没有相关关系,各SNPs存在连锁不平衡现象,CGG、CGA、CAG和TGG是最常见的4类单体型。
OBJECTIVE: To investigate the association of the most common SNPs in exon C 26304T, G 27466A and G 28152A of XRCC 1 with breast cancer Relationship. METHODS: A case-control study based on natural population was performed in 84 patients with breast cancer and 252 controls with a 1: 3 frequency matching principle. XRCC 1 C 26304T, G 27466A and G 28152A SNPs Genotyping was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Monomer distribution using EH linkage softw are 1.2 analysis software to predict and compare. Results: There were significant differences in the distribution of smoking between breast cancer patients and controls. The proportion of smokers in the case group was 7.1%, significantly higher than that in the control group (2.0%, P <0.05), sex, age, alcohol consumption, Family history of malignant tumor and other basic characteristics of the distribution of the difference was not significant (P> 0.05). There were no significant differences in the distribution of SNP polymorphisms between C 26304T, G 27466A and G 28152A SNPs in the two groups (P> 0.05). After the above factors were corrected, there was no significant correlation between XRCC1 SNPs and the incidence of breast cancer (P> 0.05). Application of EH linkage softw are 1.2 haplotype analysis software showed that there was linkage disequilibrium in all groups of XRCC 1 SNPs. CGG, CGA, CAG and TGG were the most common type 4 haplotypes. There was also no significant difference between haplotype distribution (P> 0.05). CONCLUSION: The SNPs of XRCC 1 C 26304T, G 27466A and G 28152A are not related to the risk of breast cancer. There are linkage disequilibrium among the SNPs. CGG, CGA, CAG and TGG are the most common type 4 haplotypes.