CAJ | 학술논문

目的:探讨DNA双链断裂修复基因X-射线修复交叉互补4(X-ray repair cross-complementing 4, XRCC4)基因单核甘酸多态性(single nucleotide polymorphism, SNP)与肺癌发生风险的关系.方法:采用病例-对照研究的方法,应用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism, PCR-RFLP)技术和TaqMan探针基因分型技术对781例肺癌患者和781健康志愿者(作为对照)进行XRCC4 rs6869366、rs3734091和rs1056503多态性的检测;结合PCR和定点突变技术,分别构建含有XRCC4基因启动子rs6869366位点不同等位基因的重组质粒,以双荧光素酶报告系统检测SNP位点碱基突变对启动子活性的影响.结果:XRCC4 rs6869366位点携带G等位基因的基因型(T/G+G/G)可显著增加肺癌的患病风险[比值比(odds ratio, OR)=1.607, 95%可信区间(confidence interval,CI): 1.138~2.270];rs6869366与rs3734091存在连锁不平衡,携带由其构建的单体型GC或单体型对TC/GC者患肺癌的风险增加(OR=1.993,95%CI:1.194~3.329;OR=2.013,95%CI:1.174~3.452);含rs6869366不同等位基因的启动子转录活性差异无统计学意义.结论:XRCC4 rs6869366位点多态性与肺癌的易感性有关,其影响机制还需进一步研究.
목적:탐토DNA쌍련단렬수복기인X-사선수복교차호보4(X-ray repair cross-complementing 4, XRCC4)기인단핵감산다태성(single nucleotide polymorphism, SNP)여폐암발생풍험적관계.방법:채용병례-대조연구적방법,응용취합매련반응-한제성편단장도다태성(polymerase chain reaction-restriction fragment length polymorphism, PCR-RFLP)기술화TaqMan탐침기인분형기술대781례폐암환자화781건강지원자(작위대조)진행XRCC4 rs6869366、rs3734091화rs1056503다태성적검측;결합PCR화정점돌변기술,분별구건함유XRCC4기인계동자rs6869366위점불동등위기인적중조질립,이쌍형광소매보고계통검측SNP위점감기돌변대계동자활성적영향.결과:XRCC4 rs6869366위점휴대G등위기인적기인형(T/G+G/G)가현저증가폐암적환병풍험[비치비(odds ratio, OR)=1.607, 95%가신구간(confidence interval,CI): 1.138~2.270];rs6869366여rs3734091존재련쇄불평형,휴대유기구건적단체형GC혹단체형대TC/GC자환폐암적풍험증가(OR=1.993,95%CI:1.194~3.329;OR=2.013,95%CI:1.174~3.452);함rs6869366불동등위기인적계동자전록활성차이무통계학의의.결론:XRCC4 rs6869366위점다태성여폐암적역감성유관,기영향궤제환수진일보연구.