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目的探讨新疆不同民族X射线交错互补修复基因1(X-ray repair cross complementing group 1,XRCC1)Arg399Gln基因多态性与喉癌遗传易感性的关系。方法选择新疆各大医院耳鼻咽喉科2009年6月—2011年1月经病理证实为喉鳞状细胞癌患者58例(病例组),同时选择同时期体检正常人群120例作为对照组,两组间年龄和性别进行匹配。应用Multiplex SNaPshot技术(多重单碱基延伸反应技术)检测DNA碱基切除修复基因XRCC1的Arg399Gln位点单核苷酸多态在病例组和正常对照组中的分布情况。结果 XRCC1c.399Arg/Arg、Arg/Gln和Gln/Gln基因型在病例组和对照组间(汉、维、哈)的分布频率不同,汉族和维吾尔族病例组XRCC1c.399Arg/Gln和Arg/Gln+Gln/Gln基因型频率分布均低于对照组,差异有统计学意义(P<0.05)。携带XRCC1c.399Arg/Gln+Gln/Gln基因型的个体较携带XRCC1c.399Arg/Arg基因型的个体发生喉癌的风险汉族、维吾尔族和哈萨克族分别升高了1.47、1.32和0.77倍。结论 3个民族的XRCC1c.399多态性可能与喉癌遗传性有关联且有差异,XRCC1c.399位点Arg→Gln的突变可导致喉癌的发病风险升高。
Objective To investigate the relationship between genetic polymorphism of Arg399Gln in X-ray repair cross complementing group 1 (XRCC1) and genetic susceptibility to laryngeal cancer in different ethnic groups in Xinjiang. Methods Select otorhinolaryngology in major hospitals in Xinjiang from June 2009 to January 2011 58 cases of pathological confirmed laryngeal squamous cell carcinoma (case group), while the same time, select the normal population of 120 cases as control group, between the two groups Age and gender match. Multiplex SNaPshot technique (multiplex single base extension reaction) was used to detect the single nucleotide polymorphism (SNP) of Arg399Gln site in DNA excision repair gene XRCC1 in case group and normal control group. Results The distribution frequencies of XRCC1c.399Arg / Arg, Arg / Gln and Gln / Gln genotypes were different between the case group and the control group (Han, Uygur, Kazak). The frequencies of XRCC1c.399Arg / Gln and Arg / Gln + Gln / Gln genotype frequencies were lower than the control group, the difference was statistically significant (P <0.05). The risk of laryngeal cancer in individuals carrying XRCC1c.399Arg / Gln + Gln / Gln genotypes was 1.47, 1.32 and 0.77 times higher than that of Han, Uygur and Kazakans, respectively, in individuals carrying the XRCC1c.399Arg / Arg genotype. Conclusion The polymorphisms of XRCC1c.399 in 3 ethnic groups may be related to the genetic variation of laryngeal cancer. The mutation of Arg → Gln at XRCC1c.399 site may lead to the increased risk of laryngeal cancer.