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目的:检测APE1单核苷酸多态性变化在卵巢上皮癌细胞株HO-8910、A2780、SKOV3间的表达,对进行大样本临床病例对照研究探讨APE1遗传变异与卵巢癌易感性关系进行指导。方法:提取各细胞株基因组DNA,PCR扩增目的片段,直接测序法检测产物APE1位点rs1760944、rs1130409和rs2307486在细胞株中的基因表达,测序结果解读采用Chromas2软件,并结合NCBI及HapMap数据库分析测序结果。结果:测序结果发现rs1130409突变型等位基因(G)位于细胞株A2780中,基因型为T/G;其野生型等位基因(T)位于HO-8910及SKOV3,基因型均为T/T;rs1760944突变型等位基因(G)位于细胞株A2780、SKOV3及HO-8910中,基因型均为G/G;rs2307486在三株细胞株均为野生型纯合子A/A。结论:APE1基因位点rs1130409与rs1760944在卵巢癌上皮细胞株HO-8910、A2780、SKOV3间存在单核苷酸多态性变化,提示其单核苷酸多态性可能与卵巢上皮癌易感性相关;rs2307486在HO-8910、A2780、SKOV3中不存在多态性改变,提示其单核苷酸多态性与卵巢上皮癌易感性可能无关。
OBJECTIVE: To detect the expression of APE1 SNP in epithelial ovarian cancer cell lines HO-8910, A2780 and SKOV3, and to conduct clinical case-control study on large sample to explore the relationship between APE1 genetic variation and susceptibility to ovarian cancer. Methods: The genomic DNA of each cell line was extracted and the target fragment was amplified by PCR. The gene expression of rs1760944, rs1130409 and rs2307486 in APE1 were detected by direct sequencing. The results of sequencing were analyzed by Chromas2 software and combined with NCBI and HapMap database Sequencing results. Results: The sequencing results showed that the rs1130409 mutant allele (G) was located in cell line A2780 and the genotype was T / G. The wild type allele (T) was located in HO-8910 and SKOV3, and the genotypes were all T / T ; rs1760944 mutant allele (G) located in the cell lines A2780, SKOV3 and HO-8910, genotypes were G / G; rs2307486 in three strains were wild-type homozygote A / A. Conclusion: There is a single nucleotide polymorphism in APE1 locus rs1130409 and rs1760944 in ovarian epithelial cell line HO-8910, A2780 and SKOV3, suggesting that single nucleotide polymorphisms may be associated with susceptibility to epithelial ovarian cancer ; rs2307486 in HO-8910, A2780, SKOV3 does not exist polymorphism, suggesting that the single nucleotide polymorphisms and epithelial ovarian cancer risk may not be related.