Proceedings of the National Academy of Sciences · 1988 · 722 citations · 35 references
MedicineMolecular BiologyOncologyCytogeneticsMolecular DiagnosticsMolecular OncologyCancer Molecular DiagnosticsMolecular CytogeneticsNucleic Acid Amplification TestingPediatric LeukemiasPolymerase Chain ReactionRna-based DiagnosticsAcute LeukemiasBcr-abl1 Fusion GeneLeukemia CytogeneticsLeukemia DiagnosticsLeukemia PathologyLeukemia-associated Fusion GenesMyeloid NeoplasmsTranslocation-associated Leukemias
The Philadelphia chromosome is present in more than 95% of chronic myeloid leukemia patients and 13% of acute lymphocytic leukemia patients. The Philadelphia translocation, t(9;22), fuses the BCR and ABL genes resulting in the expression of leukemia-specific, chimeric BCR-ABL messenger RNAs. To facilitate diagnosis of these leukemias, we have developed a method of amplifying and detecting only the unique mRNA sequences, using an extension of the polymerase chain reaction technique. Diagnosis of chronic myeloid and acute lymphocytic leukemias by this procedure is rapid, much more sensitive than existing protocols, and independent of the presence or absence of an identifiable Philadelphia chromosome.
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Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase
Randall K. Saiki, David H. Gelfand, Susanne Stoffel et al. · Science · 1988 · 17.2K citations