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目的探讨BRCA1基因功能性启动子c.-2265C/T多态性与卵巢癌易感性的关联性。方法应用MGB-TaqMan探针等位基因分型技术对123例上皮性卵巢癌患者(病例组)和123例与之年龄相匹配的健康汉族妇女(对照组)的外周血基因组DNA进行BRCA1功能性启动子c.-2265C/T单核苷酸多态性(SNP)基因型的检测,并进行相关性分析。结果病例组中,CC基因型44例(35.8%),CT基因型62例(50.4%),TT基因型17例(13.8%);对照组中,CC基因型45例(36.6%),CT基因型60例(48.8%),TT基因型18例(14.6%);组间比较无统计学差异(P>0.05)。与CC基因型相比,TT基因型与降低卵巢癌中低分化腺癌、子宫内膜样癌及浆液性腺癌发病风险均无明显相关性(P>0.05)。结论与C等位基因比较,T等位基因的纯合型未降低上皮性卵巢癌的发病风险。
Objective To investigate the association between BRCA1 gene promoter c.-2265C / T polymorphism and ovarian cancer susceptibility. Methods Genomic DNA of 123 peripheral blood from patients with epithelial ovarian cancer (case group) and 123 healthy Han women (control group) of the same age group underwent MGB-TaqMan probe allelic genotyping for BRCA1 functional The promoter c.-2265C / T single nucleotide polymorphism (SNP) genotypes were detected and their correlations were analyzed. Results In the case group, CC genotype was found in 44 cases (35.8%), CT genotype in 62 cases (50.4%) and TT genotype in 17 cases (13.8% There were 60 genotypes (48.8%) and 18 TT genotypes (14.6%). There was no significant difference between the two groups (P> 0.05). Compared with CC genotype, TT genotype had no significant correlation with reducing the incidence of poorly differentiated adenocarcinoma, endometrioid carcinoma and serous adenocarcinoma in ovarian cancer (P> 0.05). Conclusion Compared with C allele, homozygosity of T allele did not reduce the risk of epithelial ovarian cancer.