INTRODUCTION: The JAK2 gene provides instructions for making a protein that promotes the growth and division (proliferation) of cells. This protein is part of a signaling pathway called the JAK/STAT pathway, which transmits chemical signals from outside the cell to the cell’s nucleus. The JAK2 protein is especially important for controlling the production of blood cells from hematopoietic stem cells. These stem cells are located within the bone marrow and have the potential to develop into red blood cells, white blood cells, and platelets. Rearrangements and abnormal expression of the JAK2 gene – also known as THCYT3 or JTK10 – have been observed in acute myeloid and lymphoid leukemia’s and other malignancies.
INTENDED USE: The JAK2 Break Apart FISH probe Kit is designed to detect rearrangements in the human JAK2 gene located on chromosome band 9p24.1. In addition to revealing breaks, which can lead to translocation of parts of the gene, inversion, or its fusion to other genes, the probe set can also be used to identify other JAK2 aberrations such as deletions or amplifications.
PROBE DESCRIPTION: The 5’ telomeric fragment of the JAK2 Break Apart FISH Probe kit labeled with the fluorochrome CytoOrange covers the 5’ (start) portion of the JAK2 gene and some adjacent genomic sequences. The 3’ centromeric fragment of the JAK2 Break apart FISH Probe Kit labeled with CytoGreen covers the 3’ (end) part as well as sequences downstream of the gene. The two probes are flanking sequences across the JAK2 gene in which variable breakpoints have been observed.