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1、白癜風(fēng)人群雌激素受體基因多態(tài)性與臨床資料相關(guān)性分析作者：盧寧，高天文，姚慶君，趙明，李凱，楊勵，高超【關(guān)鍵詞】雌激素受體AssociationbetweenestrogenreceptorgenepolymorphisminvitiligopatientsandthEirclinicaldata【Abstract】AIM:TostudytheassociationbetweenestrogenreceptorαgenepolymorphisminvitiligopatientsandthEIrclinicaldata．METHODS:Polym
2、erasechainreactionrestrictionfragmentlengthpolymorphism(PCRRFLP)wasusedtostudytheERαintron1PvuIIC/T(rs2234693)polymorphismsin6patientswithvitiligo.Genotypesweredeterminedandallelefrequencieswerecomparedtofindtheirrelationshipwiththeirclinicaldata.RESULTS: Thegenotypeandallel
3、efrequencydistributionswerenotsignificantlydifferentamongvitiligopatientswithdifferentsubtypes,sex,onsetage,with/withoutotherautoimmunediseasesandfamilyhistory(P>),whilePvalueswereintherangeofsegmentalandtwogeneralizedtypevitiligopatients(segmentalvsuniversal,P=;segmentalvsc
4、ommon,P=).AndPvalueswerenearwhentheC/Tgenotypefrequencywascomparedbetweenonsetageoflowerthan1yearsoldandof12-20yearsold(P=);Pvalueswerealsolowincomparisonsofgenotype(P=)andallelefrequencies(P=)betweenthemaleandthefemalepatients.CONCLUSION:Whenthegenotypeandallelefrequencieso
5、ftheERαintron1C/Tpolymorphismwerecomparedamongvitiligopatientswithdifferentsubtypes,sex,onsetage,with/withoutotherautoimmunediseasesandfamilyhistory,nosignificantdifferencewasobserved.However,atendencyofsignificantdifferenceswasobservedincomparisonsoffemaleandmalevitiligopat
6、ients,segmentalandgeneralizedtypes,anddifferentonsetage(【Keywords】estrogenreceptoralpha;polymorphism,genetic;vitiligo;clinicaldata【摘要】目的：探討白癜風(fēng)人群雌激素受體α基因多態(tài)性與其臨床資料之間的關(guān)系.方法：應(yīng)用多聚酶鏈反應(yīng)―限制性片段長度多態(tài)性分析技術(shù)，應(yīng)用兩對引物雙重檢測466例漢族白癜風(fēng)患者ERα基因內(nèi)含子1PvuII酶切位點C/T(rs2234693)突變處基因多態(tài)性，并比較了該人群雌激素受體基因多態(tài)性分布
7、與其臨床資料之間的關(guān)系.結(jié)果：白癜風(fēng)人群基因內(nèi)含子1C/T基因型頻率及等位基因頻率在不同臨床類型、性別、發(fā)病年齡、病期、伴/不伴自身免疫疾病及有無家族成史之間均無統(tǒng)計學(xué)差別(P>)，但在皮節(jié)型與尋常型之間相比的P值在范圍內(nèi)，，12歲以下與12~20年齡組之間基因型頻率相比的P值較接近，男/女基因型頻率相比及等位基因頻率相比亦較低，有差別趨勢.結(jié)論：白癜風(fēng)人群ERα內(nèi)含子1PvuII酶切位點C/T基因型頻率及等位基因頻率在不同臨床類型、性別、發(fā)病年齡、病期、伴/不伴自身疾病及有無家族史之間均無顯著差別，但在皮節(jié)型與尋常型、發(fā)病年齡12歲以下與12
8、~20之間、男女之間有差別明顯化的趨勢，提示攜帶C基因可能是兒童期發(fā)病、尋常型及女性白癜風(fēng)患者的易感因素.【關(guān)鍵詞】雌激素受體α；多態(tài)現(xiàn)象，遺傳；白癜
