孕妇外周血中胎儿游离DNA的研究进展

··DNA443001Q987A1001-4411201201-0144-03。、CVS、、。DNADNA。。1DNADNADNA。1997LoPCR12～40SRYDNAPCRRQ－PCRDNA25.4/ml3.3～69.4292.2/ml76.9～769。DNA3.4%6.2%DNA970775DNA。Farira〔1〕6310～12YPCRDNA23.3/ml2.08～195。DNA〔2〕DNA。Chan〔3〕DNADNADNADNA99%DNA＜313bp80%＜193bpDNA145～201bpDNA＞201bpDNADNADNA。2DNADNA。32.1DNAKolialexi〔4〕X、Y、21。。DNA。2.2DNA－Bianchi〔5〕DNA200DNA。DNADNA14.3%。2.3DNASekizawa〔6〕/DNADNADNA0.9%14.3%。DNA。、DNA〔7〕。DNA18DNA〔8〕。3DNALo20IVFSRY127SRYDNASRYDNADNADNA。Guibert〔8〕22IVFSRYDNA1837。4DNALo8、、、SRY2hDNA·441·201227DNA16.3s。1601～6022%DNA〔9〕Smid〔10〕Benachi〔11〕374DNADNADNADNA。DNA。5DNA5.121－1/600～1/800＞35。Lee〔12〕21－DNA1.741.2/ml24.2/ml。Fari-na〔13〕DNAAFP、μE3、hCG、inhabitA21－81%～86%21－5%DNA21－。Wataganara〔14〕PCRDNA13－。DNA。5.2DNAX－〔15〕。X－。6.8%。Honda〔16〕DNA5～10100%。〔17〕。5.3RhDRhDRhDRhD、、RhDRhD。Costa〔18〕106RhD10～14DNARhDRQ－PCR100%。RhDRhD。5.4。Zhong〔19〕DNA103194.6copies/ml332.8copies/mlDNA10219023.9copies/ml20235.8copies/ml。DNADNA〔20〕。DNADNADNA。DNA。6DNA、。DNA。71FarinaACaramelliEConcuMetal.TestingnormalityoffetalDNAconcentrationinmaternalplasmaat10～12completedweek＇sgestationapreliminaryapproachtoanewmarkerforgeneticscreening〔J〕.Pre-natDiagn2002221482ZhongXYBurkMRTroegerCetal.FetalDNAinmaternalplasmaiselevatedinpregnancieswithaneuploidfetuses〔J〕.PrenatDiagn2000207953ChanKCAZhongJHuiABYetal.SizedistributionsofmaternalandfetalDNAinmaternalplasma〔J〕.ClinChem2004501884KolialexiATsangarisGTAntsaklisAetal.Apoptosisinmaternalpe-ripheralbloodduringpregnancy〔J〕.FetalDiagnTher2001161325BianchiDW.CirculatingfetalDNAitsoriginanddiagnosticpotentialareview〔J〕.placenta200425SupplAS936SekizawaAYokokawaKSugitoYetal.EvaluationofbidirectionaltransferofplasmaDNAthroughplacenta〔J〕.HumGenet200311343077SekizawaAJimboMSaitoHetal.Cell－freefetalDNAintheplas-maofpregnantwomenwithseverefetalgrowthrestriction〔J〕.AmJObstetGynecol200318824808GuibertJBenachiAGrebilleAGetal.KineticsofSRYgeneappear-anceinmaternalserumdetectionbyrealtimePCRinearlypregnancyafterassistedreproductivetechnique〔J〕.HumReprod200318817339InvernizziPBiondiMLBattezzariPMetal.PresenceoffetalDNAinmaternalplasmadecadesafterpregnancy〔J〕.HumGenet2002·541·DNA111058710SmidMGalbiatiSVassalloAetal.NoevidenceoffetalDNAper-sistenceinmaternalplasmaafterpregnancy〔J〕.HumGenet20031125～661711BenachiASteffannJGautierEetal.FetalDNAinmaternalserumdoesitpersistafterpregnancy〔J〕HumGenet200311317612LeeTLeShaneESMesserlianGMetal.Downsyndromeandcell－freefetalDNAinarchivedmaternalserum〔J〕.AmJObstetGyne-col2002187121713FarinaALeShaneESLambert－MesserlianGMetal.Evaluationofcell－freefetalDNAasasecond－trimestermaternalserummarkerofDown＇ssyndromepregnancy〔J〕.ClinChem200349223914WataganaraTLeShaneESFarinaAetal.Maternalserumcell－freefetalDNAlevelsareincreasedincasesoftrisomy13butnottrisomy18〔J〕.HumGenet2003112220415FinningKMChittyLS.NoninvasinefetalsexdeterminationImpactonclinicalpratice〔J〕.SeminFetalNeonatalMed2008136916HondaHMiharuNOhashiYetal.FetalgenderdeterminationinearlypregnancythroughqualitativeandquantitativeanalysisoffetalDNAinmaternalserum〔J〕.HumGenet200211017517RijndersRJvanderSchootCEBossersBetal.Fetalsexdetermina-tionfrommaternalplasmainpregnanciesatriskforcongenitaladrenalhyperplasia〔J〕.ObstetGynecol200198337418CostaJMGiovangrandiYErnaultPetal.FetalRHDgenotypinginmaternalserumduringthefirsttrimesterofpregnancy〔J〕.BrJHaematol200211925519ZhongXYLaivuoriHLivingstonJCetal.Elevationofbothmaternalandfetalextracellularcirculatingdeoxyribonucleicacidconcentrationsintheplasmaofpregnantwomenwithpreeclampsia〔J〕.AmJObstetGynecol200118441420LeungTNZhangJLauTKetal.IncreasedmaternalplasmafetalDNAconcentrationsinwomenwhoeventuallydeveloppreeclampsia〔J〕.ClinChem20014711372009-07-14〔〕545002R174A1001-4411201201-0146-03、、、。。、。1。。pH。、。。、、。、、。“”、“”、“”、“”〔1〕。50%。。。。1。、。2ⅠⅡⅢ。33.1。3.2、。·641·201227