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1、TGFβ2基因多态性、孕妇吸烟与非综合征性唇腭裂发生的关联实用口腔医学杂志(JPractStomato1)2006Nov,22(6)?827?TGFff2基因多态性,孕妇吸烟与非综合征性唇腭裂发生的关联臧光祥穆亚冰孙宏晨冯立范张泽兵欧阳喈【摘要】目的:分析TGFff2基因多态性,孕妇吸烟与非综合征性唇腭裂(NSCLP)发生的关联.方法:272例非综合征性唇裂伴或不伴腭裂(CL/P)患者和251例单纯性腭裂(CPO)患者为病例组,312例正常人为对照组;用PCR—SSCP和基因测序方法分析TGFfl2基因多态性,通过询问方式调查母
2、亲孕期的吸烟情况;应用SAS软件对数线性模型统计分析它们之间的相关性.结果:CL/P,CPO和对照组均扩增出322bp的TGFff2片段;SS—cP分析发现TGFff2存在3个等位基因(Al,A2,A3),分别含有7,8,9个ACA重复区;TGFff2基因多态性与CL/P,CPO发生的相关性分析,P<0.0001;孕妇吸烟与CL/P,CPO发生的相关性分析,P<0.0001;孕妇吸烟和TGFff2多态性在CL/P及CPO发生中交互作用分析,P>0.05.结论:TGFff2基因多态性,孕妇吸烟与非综合征性唇腭裂发
3、生有相关性;吸烟,TGFfl2多态性在NSCLP发生过程中无交互作用.【关键词】CL/P;CPO;TGFff2;基因多态性;吸烟;交互作用TheassociationofTGF~2polymorphismsandmaternalsmokingwithoccurrenceofnonsyn-dromiccleftlipandpalateZangGuangxiang,MuYabing,SunHongchen,eta1.SchoolofStomatology,JilinUniversity,Changchun130041.China【A
4、bstract1Objective:TostudytheassociationofTGFfl2polymorphismsandmaternalsmokingwiththeoccurrenceofnonsyndromiccleftlipandpalate(NSCLP).Methods:TGFff2geneswereamplifiedfromperipheralleukocytesbymeansofPCRin272casesofnonsyndromiccleftlipwithorwithoutpalate(CL/P),251ofcl
5、eftpalateonly(CPO)and312ofunrelatedcontrolsinJilinProvince,PCRproductswereanalyzedbysingle—strandedconformationpolymor—phism(SSCP)andDNAsequencing.Maternalsmokingwasinvestigated.TheassociationofTGFI32polymorphisms,maternalsmokingwiththeoccurrenceofCL/PandCPOwasanalyz
6、edbySASstatisticsystem.Results:The322bpPCRproductofTGFI32wasamplifiedfromCL/P,CPOandcontrolsamples;SSCPanalysisshowedthreeallelesofTGFI32;sequencingresultsshowedthatallelel,allele2andallele3containedseven,eightandnineACArepeatsre—spectively.Thestatisticanalysisshowed
7、thatTGFI32polymorphismsormaternalsmokingwasassociatedwiththeOC—currenceofCL/PandCPOrespectively(P<0.0001),intheoccurrenceofCL/PorCPOTGFI32polymorphismswasnotcorrelatedwithmaternalsmoking(P>0.05).Conclusion:TGFI32polymorphismsandmaternalsmokingduringpregnancyare
8、associatedwiththeoccurrenceofCL/PandCPO.TGFI32polymorphismshavenointeractionwithma—ternalsmoking.【Keywords】CL/P;CPO;TGFfl2;Polymorp
