GD 300 REAL BCR-ABL
RESEARCH OF CHROMOSOMAL TRANSLOCATIONS THROUGH REAL TIME PCRThe bio molecular analysis of chromosomal translocations, associated with hematopoietic tumours, gives an important tool for a precocious diagnosis and for the monitoring of the patients response to therapy.
The Philadelphia chromosomal, a reciprocal translocation on chromosomes 9 and 22, is revealed in more than 90% of patients affected by chronic myeloid leukaemia (CML) and it is present in 15-2’% of patients affected by acute lymphoblastic leukaemia(ALL). This kind of translocation transposes the probable gene c-ABL from chromosome 9q34 to the BCR gene on chromosome 22q11, this conducts to a chromosomal rearrangement known as BCR-ABL, a chimerical gene that, if it is transcript for a specific mRNA, codifies a chimeric protein of 210 Kda, known as p210BCR-ABL which is responsible for a growth of tyrosine chinasi’s activity.
In 99% of patiens affected by CML it presents two kind of junctions of BCR-ABL(BCR-ABL Major), generally known as b2-a2 and b3-a2, due to the exclusion (b2-a2) or the inclusion (b3-a2) of 78bp from exon 14 (or b3 of Major-brekpoint cluster region, M-BCR).
In 60% of ALL cases (rarely in cases of CML), it has been revealed a second kind of molecular rearrangement (BCR-ABL minor) located in minor-brekpoint cluster region (m-BCR),which determines a junction between the first exon of BCR gene (known as e-1) and exon 2 of ABL (e1-a2); this kind of rearrangement is shown from the production of a second chimeric protein of 190-Kda, known as p190BCR-ABL.
Compared to other methods of the determination of Ph+ clone, RT-PCR specific for mRNA of BCR-ABL is more sensitive and popular, in particular for the identification of the presence of reliable levels of the minimum residual disease (MRD) in patient in complete cytogenetic remission after the therapy.
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Date release: 24/04/2008
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