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时间:2020-04-21
《QF-PCR检测22q11.2微缺失在产前诊断CHD中的应用-论文.pdf》由会员上传分享,免费在线阅读,更多相关内容在行业资料-天天文库。
1、王文靖等0F—PCR28·4597·遗传与优生·QF—PCR检测22ql1.2似-qh畎大仕厂~fju诊~断CHD中的应用①王文靖任晨春②常诚⑧田卉张海霞梁明宏张志坤崔洪艳天津市中心妇产科医院遗传室300100中国图书分类号11714.5文献标识码A文章编号1001-4411(2014)28-4597-04;doi:10.7620/zgfybj.J.issn~lOOt一4411.2014.28.26【摘要】目的:将荧光定量PCR(QF—PCR)技术应用于22ql1.2微缺失引起的先天性心脏病(CHD)的产前诊断中,以明确部分CHD病
2、因,指导临床决策,从而减少CHD出生缺陷率。方法:对45例经B超诊断为CHD的胎儿取羊水进行染色体核型分析及QF—PCR检测,并对QF—PCR检测有缺失的CHD胎儿进行FISH验证。另选3O例经B超诊断正常、因计划外怀孕需做引产的胎儿作为对照组。结果:45例CHD胎儿共检出异常核型3例,在42例染色体正常CHD的胎儿中,经QF—PCR检测有40例TBX1与PTBP1基因拷贝数的比值为(0.936-4-0.310),接近于l2例胎儿的比值明显降低,为(0.507-4-0.038),接近于0.5,诊断为22ql1.2微缺失。这2例胎儿均
3、经FISH验证为阳性结果。结论:QF—PCR检测22ql1.2微缺失结果可靠,可用于产前诊断CHD的胎儿的病因,达到优生优育的目的。【关键词】荧光定量PCR22ql1.2微缺失先天性心脏病TBX1基因Applicationofdetectionof22ql1.2microdeletionwithFQ—PCRinprenataldiag-nosisofCHDWANGWen—ring,RENChen—Chun,CHANGCheng,eta1.DepartmentofGenetics,CentralObstetricaland(nec0一
4、logicalHospital,Tianjin300100,China【Abstract)Objective:To印plyfluorogenicquantitativePCR(FQ—PCR)inprenataldiagnosisofcongenitalheartdisease(CHD)inducedby22ql1.2microdeletiontodeterminethecausesofpartialCHDanddirectclinicaldecisionmaking,soastoreducetheincidencerateofCHD
5、.Methods:AmnioticfluidchromosomekaryotypingandFQ—PCRwereconductedamong,15caseswhosefetuseswerediagnosedasCHDbyuhrasonography,FISHwasconductedamongthecaseswhosefetuseswerefoundwithdeletiondetectedbyFQ—PCR.Thirtycasesundergoinginducedabo~ionbecauseofunwantedpregnancywhos
6、efetuseswerenormaldetectedbyuhrasonographywereselectedascontrolgroup.Results:Threefetuseswithabnormalchromosomalkaryotypesweredetectedamong45CHDfetuses;among42CHDfetuseswithnormalchromosomes,FQ—PCRshowedthattheratioofcopynumbersofTBX1goneandPTBPIgenein42fetuseswas(0.93
7、6±0.310),whichclosedto1;theratiointwofetusesdecreasedsignificantly,whichwas(0.507±0.038)andtheratioclosedto0.5,thesefetuseswerediagnosedas22ql1.2microdeletion.ThetwofetuseswereprovedtobepositivebyFISH.Conclusion:TheresultsofFQ—PCRfordetecting22ql1.2microdeletionisrelia
8、ble.whichcanbeusedforprenataldiagnosisofcausesofCHDfetusessoastoa—chieveeugenics.[Keywords]FluorogenicquantitativePCR
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