FGFR2基因单核苷酸多态性与乳腺癌的相关性研究

目的：探讨成纤维细胞生长因子受体2（FGFR2）基因第二内含子单核苷酸多态性与女性乳腺癌发生的相关性。方法：运用等位基因扩增-聚合酶链反应（ASA-PCR）方法结合琼脂糖凝胶电泳技术,对200例女性乳腺癌患者（乳腺癌组）和200例正常女性（对照组）进行检测,分析两组人群FGFR2基因第二内含子的三个单核苷酸位点rs2912778r、s3135718和rs11200014的多态性分布,并进行统计学分析。结果：rs2912778（T/T、T/C、C/C）r、s3135718（A/A、A/G、G/G）r、s11200014（A/A、A/G、G/G）的基因型分布在对照组和乳腺癌组之间的差异有明显的统计学意义（P〈0.01）;根据病理分型进一步分析,三个位点野生型与变异型相比差异均无统计学意义（P〉0.05）。结论：FGFR2基因第二内含子的三个位点单核苷酸多态性可能与中国女性乳腺癌的发生有关。

Relative research of FGFR2 gene single nucleotide polymorphism and breast neoplasm

Objective：To explore the relationship between the single nucleotide polymorphisms in the second intron of the fibroblast growth factor receptor 2（FGFR2） gene with the development of breast neoplasm in female population.Methods：The distribution of polymorphisms rs2912778,rs3135718 and rs11200014 in FGFR2 gene were analyzed by allele specific amplification（ASA） and agarose gel electrophoresis in 200 cases with breast neoplasm and 200 samples of normal controls.At the same time,PCR products were sequenced to verify the accuracy of the purpose strip.Results： Significant differences were found in the genotypes between the breast neoplasm group and the control group（P〈0.01）.No difference was found in allele frequency of rs2912778（P〈0.05） and rs11200014（P〉0.05） in the case group and the control group,while significant difference was found in rs3135718（P〈0.01）.There was a non-significant difference between the distributions of wild-type and variant-type in three mutation sites,with respect to the tumor size,histological grade and lymph node metastasis（P〉0.05）.Conclusion： The single nucleotide polymorphism in the second intron of the FGFR2 is probably associated with the incidence of breast neoplasm in Chinese women.