白癜风人群雌激素受体基因多态性与临床资料相关性分析_1

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1、白癜风人群雌激素受体基因多态性与临床资料相关性分析作者：卢宁，高天文，姚庆君，赵明，李凯，杨励，高超【关键词】雌激素受体AssociationbetweenestrogenreceptorgenepolymorphisminvitiligopatientsandthEirclinicaldata【Abstract】AIM:TostudytheassociationbetweenestrogenreceptorαgenepolymorphisminvitiligopatientsandthEIrcli

2、nicaldata．METHODS:Polymerasechainreactionrestrictionfragmentlengthpolymorphism(PCRRFLP)wasusedtostudytheERαintron1PvuIIC/T(rs2234693)polymorphismsin6patientswithvitiligo.Genotypesweredeterminedandallelefrequencieswerecomparedtofindtheirrelationshipwith

3、theirclinicaldata.RESULTS:　Thegenotypeandallelefrequencydistributionswerenotsignificantlydifferentamongvitiligopatientswithdifferentsubtypes,sex,onsetage,with/withoutotherautoimmunediseasesandfamilyhistory(P>),whilePvalueswereintherangeofsegmentalandtw

4、ogeneralizedtypevitiligopatients(segmentalvsuniversal,P=;segmentalvscommon,P=).AndPvalueswerenearwhentheC/Tgenotypefrequencywascomparedbetweenonsetageoflowerthan1yearsoldandof12-20yearsold(P=);Pvalueswerealsolowincomparisonsofgenotype(P=)andallelefrequ

5、encies(P=)betweenthemaleandthefemalepatients.CONCLUSION:WhenthegenotypeandallelefrequenciesoftheERαintron1C/Tpolymorphismwerecomparedamongvitiligopatientswithdifferentsubtypes,sex,onsetage,with/withoutotherautoimmunediseasesandfamilyhistory,nosignifica

6、ntdifferencewasobserved.However,atendencyofsignificantdifferenceswasobservedincomparisonsoffemaleandmalevitiligopatients,segmentalandgeneralizedtypes,anddifferentonsetage(【Keywords】estrogenreceptoralpha;polymorphism,genetic;vitiligo;clinicaldata【摘要】目的：

7、探讨白癜风人群雌激素受体α基因多态性与其临床资料之间的关系.方法：应用多聚酶链反应―限制性片段长度多态性分析技术，应用两对引物双重检测466例汉族白癜风患者ERα基因内含子1PvuII酶切位点C/T(rs2234693)突变处基因多态性，并比较了该人群雌激素受体基因多态性分布与其临床资料之间的关系.结果：白癜风人群基因内含子1C/T基因型频率及等位基因频率在不同临床类型、性别、发病年龄、病期、伴/不伴自身免疫疾病及有无家族成史之间均无统计学差别(P>)，但在皮节型与寻常型之间相比的P值在范围内，，1

8、2岁以下与12~20年龄组之间基因型频率相比的P值较接近，男/女基因型频率相比及等位基因频率相比亦较低，有差别趋势.结论：白癜风人群ERα内含子1PvuII酶切位点C/T基因型频率及等位基因频率在不同临床类型、性别、发病年龄、病期、伴/不伴自身疾病及有无家族史之间均无显著差别，但在皮节型与寻常型、发病年龄12岁以下与12~20之间、男女之间有差别明显化的趋势，提示携带C基因可能是儿童期发病、寻常型及女性白癜风患者的易感因素.【关键词】雌激素受体α；多态现象，遗传；白癜