Detection of the BCR/abl Gene Rearrangement by Reverse Transcriptase Based Polymerase Chain Reaction

  • Lee, Kyung-Ok (Dept. Biochemistry and Molecular Genetics, Seoul National Science Institute (SCL)) ;
  • Park, Young-Suk (Dept. Biochemistry and Molecular Genetics, Seoul National Science Institute (SCL)) ;
  • Kim, Yong-Woo (Dept. Biochemistry and Molecular Genetics, Seoul National Science Institute (SCL)) ;
  • Han, Jung-A (Dept. Biochemistry and Molecular Genetics, Seoul National Science Institute (SCL)) ;
  • Kim, Yoon-Jung (Dept. Biochemistry and Molecular Genetics, Seoul National Science Institute (SCL))
  • Received : 1996.02.03
  • Published : 1996.05.31

Abstract

The Philadelphia (Ph) chromosome is the single most intensively studied chromosome alteration characterizing a human malignancy. The specific genetic alteration of chronic myelogenous leukemia (CML) is the formation of the BCR/abl fusion gene in leukemic cells. The presence of the BCR/abl gene has important diagnostic and prognostic implications in CML. The detection of BCR/abl transcripts by reverse transcriptase based polymerase chain reaction (RT-PCR) was investigated in patients with CML in whom the Ph chromosome abnormality was documented by cytogenetic analysis. In a total of 68 CML patient cases, the Ph chromosome was found in 53 cases (77.9%) by cytogenetic analysis. On the other hand, sixty two cases (91.2%) were detected to have BCR/abl gene rearrangement Of these, b3a2 was 44 cases (64.7%) and b2a2 was 17 cases (25,0%). There was one case with both b3a2 and b2a2 (1.5%). Of the fifteen cases of Ph chromosome negative by cytogenetic anlaysis, the BCR/abl gene was observed in nine cases, The results of BCR/abl fusion gene confirmed by the direct sequencing method correlated well with PCR analysis, The amplified PCR products were detected by $1{\times}10^{-5}$ dilutions. In conclusion, PCR technique is sensitive, rapid and relatively simple for a laboratory test in detecting the BCR/abl fusion gene with CML regardless of the result of cytogenetic analysis.

Keywords

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