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1、脐带血用于血友病A产前诊断的研宄姓名:2014年6月25日脐带血用于血友病A产前诊断的研宄作者:张雪芹陈会昌李文超滕彬张萍【关键词】血友病A【摘要】B的探讨应用脐带血对血友病A(HA)进行产前诊断的可行性及准确性。方法24例HA携带者妊娠20〜24周时在超声引导下抽取脐血,用一期法检测孕妇外周血及胎儿脐血FVIII:C,用ELISA方法检测FVIII:CAg及vWF;应用LDPCR技术对携带者及其胎儿进行内含子22倒位检测,对非倒位者应用Be1IPCR/RFLP分析技术进行间接基因诊断。结果24例携带
2、者血浆FVIII:C,FVIII:CAg及vWF分别为36%〜150%(平均79%士22%),90%〜132%(平均102%士18%),92%〜141%(平均107%士16%);24例胎儿血浆FVIII:C,FVIII:CAg及vWF分别为09%〜90%(平均417%士25%),60%〜77%(平均69%士16%),58%〜74%(平均66%士13%),19例胎儿FVIII:C高于34%,5例胎儿FVIII:C低于5%;内含子22倒位胎儿1例,倒位携带者3例;BelIPCR/RFLP连锁分析诊断中型H
3、A胎儿2例。结论脐静脉穿刺取血测定FVIII:C是产前诊断HA的可行性手段,应用LDPCR和BelIPCR/RFLP基因分析技术可提高HA携带者的诊断率。【关键词】血友病A;产前诊断;胳带穿刺【Abstract】ObjectiveToinvestigatethefeasibilityandaccuracyofhemophiliaAprenataldiagnosisbyfetalbloodsampling.MethodsCordocentesiswereperformedin24pregnanthemo
4、philiaAcarriersduring20〜24gestationalweeks.TheplasmacoagulationfactorVlllactivity(FVIII:C)ofcarrier’speripheralbloodandfetusumbilicalbloodweredetectedbyBigg’sonestage.MethodTheconcentrationofvonWillbrandFactor(vWF)andFVIII:CAgwereassayedbyELISA.Intron22
5、inversionwasdirectlyexaminedbylongdistancepolymerasechainreaction,indirectlygenediagnosiswasdonebyutilizinghereditylinkageanalysisoffactorVIIIintragenicRestrictionFragmentLengthPolymorphism(RFLP)ofBelI.ResultsFVIII:C,FVIII:CAgandvWFof24carrierswere36%〜1
6、50%,90%〜132%and92%〜141%,rcspcctivcly.Thcaveragewere79%±22%,102%士18%and107%土16%,respectively.FVIII:C,FVIII:CAgandvWFof24fetueseumbilicalbioodwere09%〜90%,60%〜77%and58%〜74%,respectively.Theaveragewere417%士25%,69%士16%and66%土13%,respectively.19casesof24fetus
7、esFVIII:Cwerehigherthan34%,and5fetuseswerebelow5%丄DPRCshowedthat1fetusand3carrierswereFVIIIIVS22,and2fetuseswerediagnosedHAbyBelIPCR/RFLP.ConclusionItisaneffectivemethodinprenataldiagnosisofhemophiliaAtodetectFVIII:Coffetusesumbilicalblood.Thctechnology
8、ofLDPCRandBelIPCR/RFLPcanimprovethedetectionofhemophiliaAcarrier.[Keywords】hemophiliaA,prenataldiagnosis,cordocentesis血友病A(HA)是一种最常见的X连锁隐性遗传性出血性疾病,其病因是由于凝血因子VID基因缺陷所致的凝血因子量的缺乏或质的异常,在男性中发病率为1/5000[1]。患者需终生输注凝血因子Wl(FVin)制剂治疗和预防出血,给