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Diagnosis of Duchenne & Becker Muscular Dystrophies by Polymerase Chain Reaction
Multicenter Study Group, JAMA 267:2609-26151992., , 1992
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Article Abstract
The accuracy of a single PCR multiplex amplification(nine exons)was compared with Southern analysis with 10 cDNA probes that cover the full length of the gene.The multiplex PCR analytic method detected 82%of those deletions detected by Southern analysis methods.In one of 745 analyses,the multiplex method suggested a single exon deletion,which was not confirmed by Southern analysis,representing a false-positive rate of 0.013%. Conclusions.-Multiplex PCR represents a sensitive and accurate method for deletion detection of 46%of all cases of DMD/BMD.The method requires 1 day for analysis,is easy to perform,and does not use radioactive tracers.As such,multiplex PCR represents an efficient and rapid method for prenatal or postnatal diagnosis of DMD/BMD.
 
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genetic diagnosis,prenatal
muscular dystrophy
muscular dystrophy,Becker
muscular dystrophy,Duchenne
neurologic disease,diagnoses of
polymerase chain reaction

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