熒光原位雜交技術(shù)在產(chǎn)前遺傳性疾病檢測中的應用性研究.pdf

1、內(nèi)蒙古醫(yī)學院碩士學位論文熒光原位雜交技術(shù)在產(chǎn)前遺傳性疾病檢測中的應用性研究姓名：王曉華申請學位級別：碩士專業(yè)：人體解剖與組織胚胎學指導教師：蘇秀蘭20100501oApplicationoffluorescenceinsituhybridizationinprenataldiagnosisofgeneticdiseasesAbstractObjectiveTostraytheteehonologyoffluorescenceinsitu

2、hybridization(FISH)oninterphasenucleiofunculturedamnioticfluidorumbilicalcordbloodcellsandevaluatethefeasibilityofusingFISHforthedetectionofafewcommonchromosomeaneuploidiesonunculturedamniocytesMethodsAmnioticfluidsample

3、sweretakenfrom100womenwhoneedprenataldiagnosisFISH(5m1)wasperformedforrapidprenataldiagnosis(aneuploidiesoffivechromosomes13，21，18，XandY)Thenthekaryotypes(20rid)fromstandardcytogeneticanalysiswagcomparedtotheFISHresultsR

4、esultsTheFISHdiagnosisofallspecieswasachievedin12—24h，whilechromosomekaryotypesdiagnosisacquiredin23weeksForthetwomethods，thediagnosisofallca翻8schromosomeaneuploidperfectlyChromosomeanomalieswerefoundin8cagesthroughbotht

5、hetwomethods，includingtrisomy21(2)，trisomy18(2)，trisomy13(2)and45，X／46，xx(2)ComparedtoG—banding躓alysis，theaccuracyofFISHwithspecificp燦鎬Wag100％ConclusionsFISHcaIlbeusedintheprenataldiagnosisofchromosomeaneuploidiesbecause