人类a地中海贫血症基于培养液的无创胚胎

Medicine94(12):e

HaitaoWu,MD,ChenhuiDing,MD,XiaotingShen,MD,PhD,JingWang,MD,PhD,RongLi,MD,PhD,BingCai,MD,YanwenXu,MD,PhD,YipingZhong,MD,PhD,andCanquanZhou,MD,PhD

Abstract:Todevelopanoninvasivemedium-basedpreimplantationgeneticdiagnosis(PGD)testfora-thalassemias-SEA.

Theembryosofa-thalassemia-SEAcarriersundergoinginvitrofertilization(IVF)werecultured.Singlecellswerebiopsiedfromblastomeresandsubjectedtofluorescentgappolymerasechainreaction(PCR)analysis;thespentculturemediathatcontainedembryogenomicDNAandcorrespondingblastocystsasverificationweresubjectedtoquantitative-PCR(Q-PCR)detectionofa-thalassemia-SEA.Thediagnosisefficiencyandalleledropout(ADO)ratiowerecalculated,andthecell-freeDNAconcentrationwasquantitativelyassessedintheculturemedium.

Thediagnosisefficiencyofmedium-baseda-thalassemias–SEAdetectionsignificantlyincreased







































鍖椾含娌荤枟鐧界櫆椋庤垂鐢ㄨ澶氬皯閽?
鍖椾含涓鐧界櫆椋庡尰闄?



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