微陣列比較基因組雜交技術(shù)在植入前胚胎非整倍體篩查中的應(yīng)用.pdf

1、天津醫(yī)科大學(xué)碩士學(xué)位論文微陣列比較基因組雜交技術(shù)在植入前胚胎非整倍體篩查中的應(yīng)用姓名：魯琳琳申請學(xué)位級別：碩士專業(yè)：臨床醫(yī)學(xué)；婦產(chǎn)科學(xué)指導(dǎo)教師：白曉紅201205天津醫(yī)科大學(xué)碩士學(xué)位論文AbstractObjective：Usingthetechnologyofarraycomparativegenomichybridization(aCGH)toscreenaneuploidyofhumanembryosbeforetransferE

2、stablishawholegenomeaneuploidyscreeningmethodtodetectchomosomalabnormalitiesofsingleblastomeresMethods：Wechosed4cryopreservedembryos(El，E2、E3，E4)whichwerenormalfertilizationofthepatientswhoacceptedinvitrofertilizationtre

3、atmentintheTianjinMedicalUniversityGeneralHospimlReproductiveMedicineCenterCouplesvoluntarilydonatethefrozenembryosforresearchandsignedinformedconsentWebiopsied8blastomeres(sample1—8)fromfourfrozenthawedembryostomultiple

4、displacementamplifyAfterenzymedigestion，fluorescentlabeling，purificationandquantifyamplificationproductshybridizedaCGHchipsHybridizedaCGHchipsscannedbyAgilentScannerObtainedimagesusedFeatureexaction95readandanalyzedataan

5、dgettheresultsResults：Allof8blastomereswereamplifiedsuccessfullyThemeanconcentrationoftheproductswas88306士3463lxg／m1Themeanpuritywas1754004Themeanyieldwas17664069嶺SamplesI4werebiopsiedfromE1Theresultofsample1detectingbya

6、CGHwas47，XX，del(5)(p1533p12)，del(9)(q13q3413)，21Itwasdifferentfromsamples24whichwere46，XXE1wasmosaicismBothofsample5and6werebiopsiedfromE2Theresultofthemwere47，XX，19E2wastrisomy19Sample7wasbiopsiedfromE3Itwasanormalembry

7、o：46，XXSample8wasbiopsiedfromE4Itwasanormalembryo：46，XYConclusion：1、MultipledisplacementamplificationcouldamplifiedsingleblastomereTheconcentrationandpurityoftheproductswerestabilityItwasabletomeetthedetectionofarraycomp

8、arativegenomichybridization2、aCGHcoulddetectwholegenomeaneuploidyofblastomeresbiopsiedfromhumanembryosaspreimplantationgeneticscreeningin48hoursaCGHtechnologycouldmakeupfortheshortcomingsofroutinemethodsItdidnotaffectfre