关键词: 　碱基切除修复通路, X射线交错互补修复基因, 单核苷酸多态性, 喉癌, 易感性

Abstract:            Background and purpose: Major repair genes that affect the tumor genetic susceptibility exists in repair pathways base excision repair (BER) approach, X-ray repair cross complementing group 1(XRCC1) gene, respectively is the core of BER pathway. At home and abroad in recent years, has carried out many studies of genetic polymorphism and laryngeal cancer susceptibility. 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. Methods: 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 (rs1799782) loci single nucleotide polymorphism distribution in the case group and normal control group. Results: Three sites of the rest of the cases of XRCC1 Gln632Gln (rs3547) C/T (hybrid) and T/T (mutant) genotype, Arg399Gln (rs25487) C/T (hybrid) and T/T (mutant) genotype, Arg194Trp (rs1799782) 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 (rs1799782) G/A (hybrid) and A/A (mutant) genotype ratio is significantly higher than control group (P<0.05) in cases of Han,Uygur and Kazakh nations, carrying (rs3547) C/T and T/T genotype, (rs25487) C/T and T/T genotype, (rs1799782) 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, (rs1799782) G/G genotype. Conclusion: In the 3 nations, XRCC1 Gln632Gln, Arg399Gln, Arg280His and 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.