荧光定量PCR分析FGFR2基因多态性与乳腺癌的相关性研究  

Association of FGFR2 gene polymorphism with estrogen receptor positive breast cancer detected by fluorescent quantitative PCR

作　　者：任丽[1] 张斌[2] 曹旭晨[2] 陈瑛[1] 葛洁[2] 

机构地区：[1]天津医科大学附属肿瘤医院,教育部乳腺癌防治重点实验室,天津市肿瘤防治重点实验室检验科,300060 [2]天津医科大学附属肿瘤医院乳腺一科,300060

出　　处：《中华医学遗传学杂志》2010年第4期445-448,共4页Chinese Journal of Medical Genetics

基　　金：基金项目：天津市应用基础研究计划项目（07JCYBJC09100）

摘　　要：目的 探讨成纤维细胞生长因子受体2（fibroblast growth faceor receptor 2,FGFR2）基因rs2981582位点单核苷酸多态性（single necleotide polymorhism,SNP）与乳腺癌易感性之间的关系.方法 建立新的荧光定量PCR检测rs2981582位点SNP,并对936例乳腺癌患者和471例良性乳腺疾病患者进行病例对照研究,分析该位点SNP与乳腺癌发生之间的关系.结果 对照组CC、CT、TT各基因型的例数及基因频率分别为234（49.68%）、181（38.43%）、56（11.89%）.乳腺癌组总体各基因型例数及基因频率分别为426（44.56%）、400（41.84%）、130（13.60%）,与对照组差异无统计学意义（P=0.183）.进一步分层分析发现,雌激素受体（＋）组各基因型例数及基因频率分别为189（41.27%）、202（46.12%）、67（14.63%）,与对照组比较差异有统计学意义（P=0.035）;而雌激素受体（-）组各基因型及基因频率分别为237（47.59%）、198（39.75%）、63（12.65%）,与对照组比较差异无统计学意义（P=0.802）.结论 FGFR2基因第2内含子SNPrs2981582与雌激素受体阳性乳腺癌的发生有显著关系,同时验证了用本方法检测大批量人群标本的SNP操作简便,检测耗时短,结果特异且费用较为低廉,适合于进行大规模样品的SNP快速测定.Objective To investigate the association of fibroblast growth factor receptor 2 gene （FGFR2）rs2981582 polymorphism with breast cancer in Chinese women. Methods A case-control study was performed in 936 breast cancer patients and 471 patients with benign breast diseases by using a novel fluorescent quantitative PCR method. Results The numbers and frequencies of genotypes CC, CT, and TT in the control group were 234 （49.68%）, 181 （38.43%） and 56（11.89%） respectively. The numbers and frequencies of genotypes CC, CT, and TT in the breast cancer group were 426 （44.56 % ）, 400 （41.84%）and 130（13. 60%） respectively. And no significant difference was found between the two groups （P=0. 183）. However, stratified analysis found that the numbers and frequencies of genotypes CC, CT, TT in the estrogen receptor（ER） positive subgroup of breast cancer patients were 189（41.27%）, 202（46. 12%）and 67（14.63%） respectively, and significant difference was observed compared with control group （P=0. 035）. Conclusion Association was found in the single necleotide polymorphism（SNP） of the rs2981582 locus of intron 2 in FGFR2 gene between the ER positive breast cancer patients and control patients with benign breast diseases. The fluorescent quantitative PCR is a specific, easy-to-operate, low-expense method and is suitable for SNP detection in large scale samples.

关 键 词：荧光定量聚合酶链反应 单核苷酸多态性 成纤维细胞生长因子受体2 乳腺癌 

分 类 号：R737.9[医药卫生—肿瘤]