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目的探讨CYP1B1基因Ala119Ser与乳腺癌易感性的关联性。方法采用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)技术对88例广西壮族女性乳腺癌患者和106例健康对照者进行CYP1B1 Ala119Ser基因分型,并分析其与乳腺癌患病的关系。结果病例组CYP1B1 Ala119Ser T等位基因分布频率(30.7%)明显高于对照组(19.3%),差异有统计学意义(P<0.05)。病例组3种基因型(GG、GT、TT)分布频率与对照组相比,差异有统计学意义(P<0.05);病例组CYP1B1 Ala119Ser突变型纯合子(TT)的分布频率为10.2%,明显高于对照组(2.8%);与野生型纯合子(GG)相比,病例组TT基因型能增加乳腺癌患病风险(OR=4.74,95%CI为1.22~18.51)。结论 CYP1B1 Ala119Ser突变可能增加广西壮族妇女乳腺癌易感性。
Objective To investigate the association between CYP1B1 gene Ala119Ser and breast cancer susceptibility. Methods CYP1B1 Ala119Ser was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 88 cases of Guangxi Zhuang female breast cancer patients and 106 healthy controls, and analyzed with the breast cancer Relationship. Results The distribution frequency of CYP1B1 Ala119Ser T allele was significantly higher in case group (30.7%) than that in control group (19.3%), the difference was statistically significant (P <0.05). The frequency of distribution of three genotypes (GG, GT, TT) in case group was significantly higher than that in control group (P <0.05). The distribution frequency of CYP1B1 Ala119Ser mutant homozygote (TT) in case group was 10.2% (2.8%). Compared with wild type homozygote (GG), TT genotype in case group increased the risk of breast cancer (OR = 4.74, 95% CI: 1.22-18.51). Conclusion CYP1B1 Ala119Ser mutation may increase the susceptibility of Guangxi Zhuang women breast cancer.