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- W2183616427 abstract "Inordertodevelop andvalidate methods forthe preimplantation diagnosis of Duchennemusculardystrophy(DMD), we haveestablished andevaluated PCR assays fortheanalysis offourlociwithin theDMD gene and fortwo Y chromosome sequences insingle cells. A model system usingbuccalcellspickedfrom mouthwashsampleshasbeenusedforan extensive evaluation of thesensitivity andspecificity oftheassays,and each assay hasbeentested insamplescontainingsingle cells, two cells, andthreecells per tube.ThefourDMD andtwoY assays havebeencombinedinduplexandtriplexreactions toenablesimultaneous diagnosis ofDMD andoffetal sex.Oneofthe DMD markersisa highlypolymorphic simpletandemrepeatlocuswhichproducesa basicDNA profile, andprovides a controlforcontamination by foreign DNA. Amplification ofDMD or Y sequences was observedin78to 92% of single malecells, rising to96% and97% intubescontaining two or threemale cellsrespectively. Coamplification of botha DMD anda Y sequence together occurredwitha mean success of74% in single malecells, increasing to93%with two,and95% withthreecells per tube. Withappropriate precautions, we believe thatitisnow possible toproceed toclinicalapplication oftheseprocedures. (JMedGenet1993;30:903-9)" @default.
- W2183616427 created "2016-06-24" @default.
- W2183616427 creator A5018605883 @default.
- W2183616427 date "1993-01-01" @default.
- W2183616427 modified "2023-09-27" @default.
- W2183616427 title "Development andvalidation oflaboratory procedures forpreimplantation diagnosis of Duchenne muscular dystrophy" @default.
- W2183616427 cites W2038691921 @default.
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- W2183616427 hasPublicationYear "1993" @default.
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