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1、唐氏綜合征快速產(chǎn)前診斷方法的研究【摘要】目的：建立快速產(chǎn)前診斷唐氏綜合征的方法。方法：以唐氏綜合征關(guān)鍵區(qū)域內(nèi)的STR(Shorttandemrepeat,STR)作為遺傳標記，采用熒光定量PCR的方法擴增外周血和胎兒羊水標本STR位點，同時與細胞遺傳學分析結(jié)果比較，評價熒光定量PCR快速診斷方法的特異性和靈敏度。結(jié)果：細胞遺傳學分析確診的68例正常核型和32例唐氏綜合征標本中，熒光定量PCR快速診斷結(jié)果均與染色體核型分析結(jié)果一致。其中正常核型的STR位點雜合體樣本擴增產(chǎn)物顯示為雙峰，各位點的峰面積比值分別是D21S111.1～1.2;D21S
2、14111.3～1.5;D21S20391.0～1.1;STR位點純合體樣本的擴增產(chǎn)物顯示為單峰。而唐氏綜合征患者的樣本STR位點擴增產(chǎn)物可顯示為1∶1∶1的三個峰，或者典型的2∶1的雙峰，此類雙峰的峰面積比值分別為D21S111.4～1.9;D21S14111.5～2.0;D21S20391.3～1.6。正常組和病例組的峰面積比值經(jīng)秩和檢驗差異有顯著意義(P<0.01)。結(jié)論：熒光定量PCR具有快速、特異性高、可標準化操作等優(yōu)點，適宜于快速診斷唐氏綜合征?！娟P(guān)鍵詞】熒光定量PCR;唐氏綜合征;產(chǎn)前診斷AStudyontherapidpren
3、ataldiagnosisforDown’ssyndromeBAORu-rong[1],ZHUBao-sheng[2],SUJie[2],TANGXin-hua[2](1.TheAffiliatedHospital,QiannanMedicalCollegeforNationalities,Duyun558000,China;2.GeneticDiagnosisCenter,TheFirstPeople’sHospitalofYunnanProvince,Kunming650032,China)【Abstract】Ob
4、jectiveTosetupamethodforrapiddetectionoftheDown’ssyndromeMethodsChoosingcertainSTRswhichlocateintheDown’ssyndromecriticalregionasthegeneticmarkersofchromosome21,QF-PCRwasemployedtotesttheSTRploidiesofsamples.Itssensitivityandspecificitywereevaluatedthroughcompar
5、ingtheresultsfromQF-PCRwiththosefromcytogeneticanalysis.ResultsInthese68normaland32Down’ssyndromesamples,theresultbyQF-PCRareinaccordwiththecytogeneticsanalysis.Inthesampleswithnormalkaryotypes,theampliconsofSTRsdisplayedeitherdiallelicpeaksorsinglepeak,thepeakarearat
6、iosofeachdiallelicpeakwere1.1～1.2forD21S11,1.3～1.5forD21S1411and1.0～1.1forD21S2039,respectively.However,inthesampleswithDown’ssyndrome,theampliconsofSTRsmightshowtriallelicpeakswithsimilarfluorescentintensity,orcharacteristicdiallelicpeakswith2∶1intensity,orasinglepea
7、k.Thepeakarearatiosofsuchdiallelicpeakswere1.4～1.9forD21S11,1.5～2.0forD21S1411,1.3～1.6forD21S2039,respectively.AsignificantdifferenceinthepeakarearatiosofdiallelicpeakswasfoundbetweenthenormalkaryotypeandtrisomygroupsbytheWilcoxonranksumtest(P<0.01).ConclusionsQF-PCRisagood
8、methodoffast,highthroughput,andcanbeoperatedwithstandardization,whichcanbeusedtora
