雌激素受体α基因PvuII和XbaI多态性与原发性小乳症的关系

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。

Association of estrogen receptor Pvu II and Xba I restriction polymorphisms with micromastia

Objective:To investigate the association between the polymorphism of estrogen receptor(ER) alpha gene Pvu II,Xba I and breast hypoplasia.Methods: 70 female patients aged 18 to 45 who were diagnosed as micromastia from December 2009 to June 2011,and 69 healthy women with normal breast size and shape were involved in this study.ERα PvuⅡ and Xba I restriction polymorphisms were detected among these people by PCR-restriction fragment length spolymorphism analysis.Results: The genotypes of ERαgene Pvu II were pp(40%),Pp(47.14%) in micromastia patients and pp(10.14%),Pp(68.12%) in healthy controls.There was statistical difference between the two groups(P<0.0001,P=0.0124).The genotypes of ERαgene Xba I were xx(77%),Xx(21%),XX(0.10%)in micromastia patients and xx(63%),Xx(10%),XX(26%) in healthy controls.There was statistical difference between the two groups(P<0.0001).In micromastia patients,OR of allele P/p was 0.4540(95% CI:0.2093～0.8326),showing p may be the susceptible gene of micromastia.OR of recessive genotypes pp/P carrier was 5.9048(95% CI:2.3622～14.7604),showing pp genotype was associated with micromastia.OR of allele X/x was 0.3054(95% CI:0.1639～0.5688),showing x may be the susceptible gene of micromastia.OR of recessive genotypes xx/X carrier was 1.9176(95% CI:1.9121～4.0317),showing xx genotype was associated with micromastia.Conclusion: Polymorphism of ERα gene Pvu Ⅱand Xba I is associated with breast hypoplasia.The allele p and x may be susceptibility genes for micromastia and micromastia is associated with genotypes pp and xx.