【作者】 王松；

【导师】 阿依恒·曲库尔汗；

【作者基本信息】 新疆医科大学 ， 耳鼻咽喉科学（专业学位）， 2015， 硕士

【摘要】 目的：探讨新疆维、汉、哈民族BER通路DNA修复基因XRCC1多位点单核苷酸多态性与新疆不同民族喉癌易感性关系。方法：采用患者组与对照组的研究设计,选择新疆医科大学附属医院耳鼻喉科病理确诊的58例喉鳞状细胞癌患者和120例体检正常的健康人对照,应用Multiplex SNaPshot技术检测DNA碱基切除修复基因XRCC1的Gln632Gln (rs3547)、Arg399Gln(rs25487)、Arg280His(rs25489)、 Arg194Trp(rs1799782)位点单核苷酸多态在患者组和正常对照组中的分布情况。结果：喉癌患者组中XRCC1 Arg280His(rs25489) C/T(杂合型)及T/T(突变型)基因型的比例与对照组差异无统计学意义；喉癌患者组中XRCC1的其余3个位点Gln632Gln(rs3547)C/T(杂合型)及T/T(突变型)基因型、Arg399Gln(rs25487)C/T(杂合型)及T/T(突变型)基因型、Arg194Trp(rs1799782)G/A(杂合型)及A/A(突变型)基因型的比例明显高于对照组(P<0.01)。其中汉,维、哈3个民族患者组Gln632Gln(rs3547)C/T(杂合型)及T/T(突变型)基因型、Arg399Gln(rs25487)C/T(杂合型)及T/T(突变型)基因型、Argl94Trp(rs1799782)G/A(杂合型)及A/A(突变型)基因型比例显著高于对照组(P<0.05),携带(rs3547)C/T及T/T基因型、(rs25487)C/T及T/T基因型、(rs1799782)G/A及A/A基因型个体较携带XRCCl(rs3547) C/C基因型、(rs25487)C/C基因型、(rs1799782)G/G基因型的个体患喉鳞状细胞癌的风险升高了分别为0.96倍、1.74倍、1.39倍；1.47倍、1.32倍、0.77倍；1.49倍、1.51倍、1.56倍。结论：维哈汉3个民族的XRCC1 Gln632Gln、Arg399Gln、Arg280His、Arg194Trp位点的单核苷酸多态性可能与喉癌遗传性有关联且有差异,XRCC1中的Gln632GIn、Arg399Gln、Arg194Trp位点的突变将导致喉癌的发病风险升高。而XRCC1中的Arg280His位点突变与喉癌的发病的差异无统计学意义,可能该位点的突变与喉癌发病无关。更多还原

【Abstract】 Objective:Researching on the base excision repair (BER) pathway of DNA repair gene XRCC1 bases mononuclear nucleotide polymorphism and the relationship between different ethnic groups laryngeal cancer susceptibility in xinjiang Han, Uygur and Kazak nationalities. Methods:Cases of XRCC1 Arg280His (rs25489) C/T (hybrid) and T/T (mutant) there was no statistically significant difference with control group in the proportion of the genotypes.A case-control study was performed on 58 patient with laryngeal squamous cell carcinoma and 120 random healthy control group. Multiplex SNaPshot technic was used to detect DNA base excision repair gene XRCC1 Gln632Gln (rs3547), Arg399Gln (rs25487), Arg280His (rs25489), Arg194Trp (rsl799782) loci single nucleotide polymorphism distribution in the case group and normal control group. Result: Three sites of the rest of the cases of XRCCl Gln632Gln (rs3547) C/T (hybrid) and T/T (mutant) genotype, Arg399Gln (rs25487) C/T (hybrid) and T/T (mutant) genotype, Arg194Trp (rsl799782) G/A (hybrid) and A/A (mutant) genotype is notably higher than that of control group (P<0.01). Gln632Gln (rs3547) C/T (hybrid) and T/T (mutant) genotype, Arg399Gln (rs25487) C/T (hybrid) and T/T (mutant) genotype, Arg194Trp (rsl799782) G/A (hybrid) and A/A (mutant) genotype ratio is significantly higher than control group (P<0.05) in cases ethnic group of Han.Uygur and Kazak nationalities, carrying (rs3547) C/T and T/T genotype, (rs25487) C/T and T/T genotype, (rsl799782) G/A and A/A genotype individual risk of laryngeal squamous cell carcinoma are added to the 0.96,1.74 and 1.39 times; 1.47,1.32 and 0.77 times; 1.49,1.51 and 1.56 times than XRCC1 (rs3547) C/C genotype, (rs25487) C/C genotype, (rsl799782) G/G genotype. Conclusion:Three national XRCC1 Gln632Gln, Arg399Gln, Arg280His, Arg194Trp loci polymorphism may be associated with laryngeal cancer genetic and there are differences, XRCC1 Gln632Gln, Arg399Gln, Arg194Trp locus mutation will lead to an elevated risk of throat cancer. XRCC1 Arg280His locus mutation has no statistically significant difference with the onset of throat cancer, may have nothing to do with the onset of laryngeal cancer on the site of mutation.更多还原