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1、唐氏综合征快速产前诊断方法的研究【摘要】目的：建立快速产前诊断唐氏综合征的方法。方法：以唐氏综合征关键区域内的STR(Shorttandemrepeat,STR)作为遗传标记，采用荧光定量PCR的方法扩增外周血和胎儿羊水标本STR位点，同时与细胞遗传学分析结果比较，评价荧光定量PCR快速诊断方法的特异性和灵敏度。结果：细胞遗传学分析确诊的68例正常核型和32例唐氏综合征标本中，荧光定量PCR快速诊断结果均与染色体核型分析结果一致。其中正常核型的STR位点杂合体样本扩增产物显示为双峰，各位点的峰面积比值分别是D21S111.1～1.2;D21S
2、14111.3～1.5;D21S20391.0～1.1;STR位点纯合体样本的扩增产物显示为单峰。而唐氏综合征患者的样本STR位点扩增产物可显示为1∶1∶1的三个峰，或者典型的2∶1的双峰，此类双峰的峰面积比值分别为D21S111.4～1.9;D21S14111.5～2.0;D21S20391.3～1.6。正常组和病例组的峰面积比值经秩和检验差异有显著意义(P<0.01)。结论：荧光定量PCR具有快速、特异性高、可标准化操作等优点，适宜于快速诊断唐氏综合征。【关键词】荧光定量PCR;唐氏综合征;产前诊断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
