The MLL (KMT2A) gene is located in the q23.3 region of chromosome 11, which encodes a transcriptional coactivator that plays an important role in the regulation of gene expression during early development and hematopoiesis.
PROBE DESCRIPTION
The MLL (KMT2A) gene detection probe uses an orange-red dye to label the MLL gene, and a green dye to label chromosome 11 centromere region (CEP11). The MLL (KMT2A) gene marker region is located at 11q23.3, and the CEP11 probe is labeled with a specific alpha satellite sequence.
CLINICAL SIGNIFICANCE
MLL (KMT2A) gene deletion is seen in primary neuroblastoma, and MLL (KMT2A) inactivation is associated with malignant progression of neuroblastoma in malignant progression of neuroblastoma without MYCN gene amplification.
References
Ford DJ & Dingwall AK (2015) Cancer Genet 208:178-91.