t(15;17)(q24.1;q21.1)(PML,RARA) bcr1 fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method

t(15;17) BCR1/control Mar

Definition

A balanced reciprocal translocation involving chromosomes 15 and 17, (15;17)(q22;q21), results in a fused transcript between PML and RARA genes. This gene fusion produces the PML-RARA fusion protein, a transcriptional repressor, which causes acute promyelocytic Leukemia (APL). Depending on the breakpoint within the PML gene, various fusion transcripts will be generated: long (L or bcr1), variant (V or bcr2), and short (S or bcr3). Techniques like real-time PCR are used to detect the PML-RARA fused transcripts and breakpoints. An endogenous control gene transcript (e.g. ABL1, GUS or BCR) is amplified along with the fusion transcript of interest. Standard curves of known amounts of both the control and fusion transcript are used to calculate the ratio of the fusion transcript signal to the control gene signal.

ABL; ABL1; ABL1 transcript; Acute promyelocytic leukemia; APL; BM; BON; Bone marrow; breakpoint cluster region 1; control gene; DNA; gene fusion; gene translocation; Genetics; Heredity; Heritable; Inherited; long form; MAR; Marrow (bone); minimal angle of resolution; Minimum angle of resolution; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.TRANSLOCATION; Myelogenous; MYL; NR1B1; Number ratio; PCR; PML-1; PML-2; PML-3; PML-3B; PML-X; Point in time; Promyelocytic leukemia; QNT; Quan; Quant; Quantitative; Random; RAR alpha form; RARalpha; Retinoic acid receptor alpha; RNA; T prime; t(15,17) (PML,RARA) gene translocation; t(15,17)(PML,RARA) gene translocation breakpoint cluster region 1; t(15,17)(q22,q11.2-q12); t(15;17) BCR1; t(15;17)(PML,RARA); translocation

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