论文部分内容阅读
目的:探讨雌激素受体(ER)α基因Pvu II和Xba I多态性与小乳症的关系。方法:选取2009年12月-2011年6月我院收住的年龄18岁～45岁的小乳症的女性患者70例,以乳房大小形态正常的健康女性69例作为对照。应用聚合酶链反应-限制性片段长度多态性分析技术检测两组ERα基因的Xba I和PvuⅡ多态性。结果:ERα基因PvuII基因型分布为:小乳组pp型40%,Pp型47.14%,正常对照组分别为10.14%、68.12%,两组比较差异有统计学意义(P<0.0001,P=0.0124)。ERα基因Xba基因型分布为:小乳组xx、Xx与XX分别为77%、21%和0.10%;正常对照组:xx,Xx与XX分别为63%,10%和26%,两组比较差异有统计学意义(P<0.0001)。小乳组P/p两等位基因的OR值为0.4540(95%CI:0.2093～0.8326),即可能p基因是小乳症的易感基因。隐性基因型pp/P携带者的OR值为5.9048(95%CI:2.3622～14.7604),提示小乳症与pp基因型有关联。小乳组:X/x两等位基因的OR值为0.3054(95%CI:0.1639～0.5688),可能x基因是该疾病的易感基因;隐性基因型xx/X携带者的OR值为1.9176(95%CI:1.9121～4.0317),提示小乳症与xx基因型有关联。结论:ERα基因Pvu II和Xba I多态性与小乳症的发病有关,等位基因p和x可能是小乳症的易感基因,小乳症与pp、xx基因型有关联。
Objective: To investigate the relationship between estrogen receptor (α) gene Pvu II and Xba I polymorphism and small milk disease. Methods: Seventy women with small breast cancer aged 18-45 years admitted in our hospital from December 2009 to June 2011 were enrolled. The control group included 69 healthy women with normal breast size and shape. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect Xba I and PvuII polymorphism of ERα gene in two groups. Results: The distribution of PvuII genotypes in ERα gene was 40% in small milk group and 47.14% in Pp type, which was 10.14% and 68.12% in normal control group respectively, with significant difference between the two groups (P <0.0001, P = 0.0124 ). The distribution of Xba genotype of ERα gene was: xx, Xx and XX in small milk group were 77%, 21% and 0.10% respectively; in normal control group, xx, Xx and XX were 63%, 10% and 26% The difference was statistically significant (P <0.0001). The OR of P / P allele in small milk group was 0.4540 (95% CI: 0.2093-0.8326), which indicated that p gene might be a susceptible gene to small milk disease. The odds ratio (OR) of carriers with recessive genotype pp / P was 5.9048 (95% CI: 2.3622 ~ 14.7604), suggesting that small milk disease was associated with the pp genotype. In the small milk group, the odds ratio (OR) of the X / X allele was 0.3054 (95% CI: 0.1639-0.5688). The x gene may be the predisposing gene of the disease. The OR of the xx / X carriers of the recessive genotype 1.9176 (95% CI: 1.9121 ~ 4.0317), suggesting that small milk disease is associated with the xx genotype. CONCLUSION: The Pvu II and Xba I polymorphisms of ERα gene are associated with the pathogenesis of small breast disease. The alleles p and x may be susceptible genes for small breast disease. Small breast disease is associated with pp and xx genotypes.