國產(chǎn)熒光原位雜交(FISH)探針在產(chǎn)前染色體異常診斷中的應用研究.pdf

1、貴陽中醫(yī)學院碩士學位論文國產(chǎn)熒光原位雜交（FISH）探針在產(chǎn)前染色體異常診斷中的應用研究姓名：朱珊珊申請學位級別：碩士專業(yè)：中西醫(yī)結合臨床婦科指導教師：黃元華20090601貴陌中醫(yī)學院碩士學位論文AbstractObjective：Toevaluatethefeasibilityofdomesticfluorescenceinsituhybridization(FISH)probesofchromosome13，21，18，XandY

2、inprenataldiagnosisofchromosomaldisease。Method：ProspectivestudyAmnioticfluidsamplesweretakenfiom85women缸l≯一32gestationalweekswhosefetuseswereathighriskofprenatalbirthdefects。Domesticprobesofchromosome13，21，18，XandYwereus

3、edtoexamineinterphaseamnioticfluidcells(AFCs)byFISH，withthecomparisonofkaryotypeanalysisbyGbandResults：85caseswereentirelynormalwithgoodhybridization，darkbackgroundandclearsignal，reportrateofkaryotypeanalysiswas9882％，dom

4、esticFISHprobeshadsignalexpressionrateof100％，thesignalquantityofvariousprobesandkaryotypeanalysisresultswereconsistent，andfalse—negativerateandfalsepositiverateof0In84successfulcasesofkaryotypeanalysis，thereWasonecaseofa

5、bnormalstructureon46，XX，4，一15，t(4；15)，mar，whichWaSnormalbyFISH。Conclusion：DomesticFISHprobesofctlromosomehadhigherefficiencyinthecytogeneticdetection，andcouldbecombinedwithcellcultureandkaryotypeanalysisforgeneticdisease