XPA基因内含子区rs3176658多态性与乳腺癌易感性分析  

Association of XPA gene intron rs3176658 polymorphism with breast cancer susceptibility Min Jianping,Song Lijuan,Wang Lan,

作　　者：闵建平[1] 宋丽娟[1] 王兰[1] 王海涛[1] 郭欢[1] 胡清荣[1] 王千千 白晓蓉[1] 张斌明[1] 朱公建[1] Wang Haitao;Guo Huan;Hu Qingrong;Wang Qianqian;Bai Xiaorong;Zhang Binming;Zhu Gongjian(Gansu Provincial Academic Institute for Medical Reseach/Gansu Provicial Cancer Hospital,Lanzhou 730050,China)

机构地区：[1]甘肃省医学科学研究院/甘肃省肿瘤医院,甘肃兰州730050

出　　处：《甘肃医药》2023年第6期481-484,共4页Gansu Medical Journal

基　　金：兰州市科技发展计划项目(编号:2022-ZD-76)。

摘　　要：目的:探讨着色性干皮病A(XPA)基因单核苷酸多态性(SNPs)与汉族女性人群中乳腺癌易感性的关系,以甘肃省居住的汉族散发性乳腺癌101例和乳腺纤维腺瘤101例作为研究对象。方法:结合在线预测与文献回顾,筛选出XPA基因rs3176658(C>T)SNPs位点,使用聚合酶链反应—限制性片段长度多态性(PCR-RFLP)法,提取基因组DNA进行rs3176658位点SNP分型检测。结果:研究结果显示,XPA基因rs3176658位点多态性与甘肃地区女性乳腺癌易感性相关,突变型T/T携带者增加乳腺癌发病风险(χ^(2)=4.641,P<0.05);rs3176658位点多态性与患者组织中ER、PR、P53、Her-2、Ki67的表达以及淋巴结转移不相关。结论:XPA基因rs3176658 T/T基因型增加甘肃地区汉族女性乳腺癌易感性。Objective:To investigate the relationship between xeroderma pigmentosum A gene(XPA)single nucleotide polymorphisms(SNPs)and breast cancer susceptibility in Han female population.101 cases of sporadic breast cancer and 101 cases of breast fibroadenoma living in Gansu Province were studied.Methods:Combined with online prediction and literature review,rs3176658(C>T)SNPs of XPA gene were screened out,and PCR-restriction fragment length polymorphism(PCR-RFLP)was used to extract genomic DNA for SNP typing of rs3176658.Results:The results showed that the polymorphism of rs3176658 site of XPA gene was associated with the susceptibility of female breast cancer in Gansu Province,and the mutation of T/T carriers increased the risk of breast cancer(χ^(2)=4.641,P<0.05).rs3176658 polymorphism was not correlated with the expression of ER,PR,P53,Her-2,Ki67 and lymph node metastasis in patient tissues.Conclusion:XPA gene rs3176658 T/T genotype increases the breast cancer susceptibility of Han women in Gansu province.

关 键 词：乳腺癌 XPA 内含子 SNP rs3176658 P53 淋巴结转移 

分 类 号：R737.9[医药卫生—肿瘤]