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目的:探讨成纤维细胞生长因子受体2基因(FGFR2)第二内含子单核苷酸多态性在女性群体中的频率分布及其与女性乳腺癌易感性之间的相关性。方法:运用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法结合琼脂糖凝胶电泳技术,对106例女性乳腺癌患者(乳腺癌组)和116例正常女性(对照组)对照进行检测,分析两组贵州地区人群FGFR2基因第二内含子的两个单核苷酸多态性位点rs2420946和rs2981579的基因及基因型的分布情况。结果:乳腺癌组FGFR2基因单核苷酸多态性位点rs2420946的基因型(AA,AG,GG)频率分别为15.09%、48.11%、36.79%,对照组为18.10%、43.97%、37.93%;乳腺癌组与对照组A等位基因频率分别为39.15%和40.09%,G等位基因频率分别为60.85%和59.91%;两组人群分别进行比较,基因型及等位基因频率分布的差异均无统计学意义(P>0.05);FGFR2基因rs2981579的基因型(CC,CT,TT)频率在乳腺癌组分别为30.19%、45.28%、24.53%,对照组为27.59%、48.28%、24.14%;乳腺癌组与对照组C等位基因频率分别为52.83%和51.72%,T等位基因频率分别为47.17%和48.28%;两组人群分别进行比较,基因型频率与等位基因频率分布的差异均无统计学意义(P>0.05)。结论:FGFR2基因第二内含子的两个单核苷酸多态性位点rs2420946及rs2981579在乳腺癌及对照人群中基因型频率与等位基因频率分布差异均无统计学意义,提示两个位点的多态性与乳腺癌无明显相关性。
Objective: To investigate the frequency distribution of the second intron of FGFR2 gene in female population and its relationship with the susceptibility of female breast cancer. Methods: 106 cases of breast cancer patients (breast cancer group) and 116 normal women (control group) were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and agarose gel electrophoresis The control group was used to detect the distribution of the two genotypes of rs2420946 and rs2981579 in the second intron of FGFR2 gene in two groups in Guizhou. Results: The frequency of genotypes (AA, AG, GG) of single nucleotide polymorphism site rs2420946 in FGFR2 gene in breast cancer patients were 15.09%, 48.11% and 36.79%, respectively, and those in control group were 18.10%, 43.97% and 37.93% ; The frequencies of allele A in breast cancer group and control group were 39.15% and 40.09%, respectively, and the frequencies of G allele were 60.85% and 59.91% respectively; the difference of genotype and allele frequencies between the two groups were compared The frequencies of genotypes (CC, CT, TT) of rs2981579 in FGFR2 gene were 30.19%, 45.28% and 24.53% in breast cancer group and 27.59%, 48.28% and 24.14 in control group respectively %. The allele frequencies of C allele in breast cancer group and control group were 52.83% and 51.72%, respectively. The frequencies of T allele were 47.17% and 48.28% respectively. The frequency of genotypes and allele frequencies were compared between the two groups The difference was not statistically significant (P> 0.05). CONCLUSION: There are no significant differences in genotype frequency and allele frequency distribution between two SNPs in the second intron of FGFR2 gene in rs2420946 and rs2981579 in breast cancer patients and controls, suggesting that two Locus polymorphism and breast cancer no significant correlation.