QF-PCR检测22q11.2微缺失在产前诊断CHD中的应用-论文.pdf

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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