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Detail Article

Indonesian Journal of Clinical Pathology and Medical Laboratory

ISSN 0854-4263

Vol. 20 / No. 1 / Published : 2013-01

TOC : 11, and page :47 - 50

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Original Article :

Fusion of gen breakpoint cluster region abelson kinase (bcr-abl) and routine haematological test

Author :

  1. Delita Prihatni*1
  2. Ida Parwati*2
  3. Rahmat Sumantri*3
  4. Rully MA. Roesli*4
  5. Nurizzatun Nafsi*5
  1. Dosen Fakultas Kedokteran
  2. Dosen Fakultas Kedokteran
  3. Dosen Fakultas Kedokteran
  4. Dosen Fakultas Kedokteran
  5. Dosen Fakultas Kedokteran

Abstract :

Chronic myeloid leukemia (CML) is a type of Chronic myeloproliferative disorders in pluripotencial stem cell haematopoiesis cell disease caused by somatic mutation chromosomal translocation of the Abelson (ABL) and Breakpoint Cluster Region (BCR) genes on chromosomes 9 and 22. The Breakpoint Cluster Region Abelson Kinase (BCR-ABL) gene encodes different fusion transcripts of messenger Ribo Nucleic acid (m RNA)/type of  fusion gene that vary in size depending on the breakpoint in the BCR gene. The majority of CML cases have been shown to have either b3a2 or b2a2 fusion gene. This research is a preliminary study designed to know how to identify a quantification BCR-ABL gene and expresion fusion of gene and its relation to routine haematological parameters. The researchers analyzed 12 adults who were positive using a quantification ratio BCR-ABL and Glucose-6-Phosphate Dehydrogenase (G6PDH) as a house keeping gene by real-time quantitative polymerase chain reaction (RQ PCR) of chronic phase of CML patients, qualitative of translocation of BCR-ABL gene by gel agarose and routine haematological tests by a hsematologic analyzer. The average quantification ratio of BCR-ABL gene and G6PDH was 0.0881, 50% patients had b3a2 fusion gene, 41.6% had b2a2 dan 0.4% had e1a1. Fusion gene b3a2 showed a quantification ratio, haemoglobin level and leukocyte count higher compared to b2a2 fusion gene.          Chronic myeloid leukaemia (CML) merupakan kelainan mieloproliferatif tertentu di pluripotensial sel punca hematopoiesis yang disebabkan oleh mutasi somatik translokasi kromosom gen Abelson Kinase (ABL) dan gen Breakpoint Cluster Region (BCR) di kromosom 9 dan 22. Gen Breakpoint Cluster Region Abelson Kinase (BCR-ABL) yang menyandi berbagai transkripsi messenger Ribo Nucleic acid (mRNA)/jenis fusi gen yang mempunyai berat molekul berbeda, bergantung lokasi titik putus (breakpoint) di gen BCR. Sebagian besar penderita CML mempunyai fusi gen b3a2 dan b2a2. Penelitian ini merupakan kajian pendahuluan untuk mengetahui hubungan kuantifikasi gen BCR-ABL dan ekspresi berbagai fusi gen dengan tolok ukur hematologis yang rutin. Penelitian ini melibatkan 12 orang penderita CML dewasa tingkatan kronik yang dinyatakan positif pada pemeriksan angka banding kuantifikasi gen BCR-ABL dan Glucose-6-Phosphate Dehydrogenase (G6PDH) sebagai house keeping gene dengan real-time quantitative polymerase chain (RQ PCR), pemeriksaan qualitative translocation gen BCR-ABL dengan gel agarosa dan pemeriksaan hematologik rutin menggunakan haematological analyzer. Rerata angka banding kuantifikasi gen BCR-ABL dengan G6PDH didapatkan 0,0881, 50% penderita CML mempunyai fusi gen b3a2, sebanyak 41,6% berfusi gen b2a2 dan 0,4% berfusi gen e1a1. Fusi gen b3a2 berangka banding kuantifikasi gen BCR-ABL/G6PDH, kadar hemoglobin dan jumlah leukosit yang lebih tinggi bila dibandingkan dengan fusi gen b2a2.         

Keyword :

BCR-ABL, fusion gene, routine haematological test ,

References :

  1. Wagner AJ and Benz EJ Jr, (2008). Anatomy and physiology of the gene. Philadhelpia : elsevier Churchil Livingstone


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Volume : 20 / No. : 1 / Pub. : 2013-01
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