XL TP53/NF1
XL TP53/NF1 detects deletions in the short and long arm of chromosome 17. The orange labeled probe hybridizes to a specific region at 17p13 covering the TP53 gene region. The green labeled probe hybridizes to the NF1 gene region at 17q11.2.
TP53 is a tumor suppressor gene often described as the guardian of the genome. Deletions and/or mutations can be detected in a wide range of hematological neoplasms and are the most common genetic aberrations in human cancer. The neurofibromin 1 gene (NF1), located at 17q11.2, is a tumor suppressor gene negatively regulating the RAS signal transduction pathway. Germline-loss of function can cause neurofibromatosis type I, a congenital genetic disorder of the nervous system which usually appears during childhood. Somatic deletions of NF1 are detected in about 3.5-7% of de novo acute myeloid leukemia (AML) cases and are often associated with a complex aberrant karyotype. Mutations in the remaining NF1 allele are reported with varying frequency. NF1 deleted cells have a decreased sensitivity to Ara-C in cell culture studies.
FISH is a valuable tool for the detection of NF1 deletions which might be easily overlooked by conventional cytogenetics due to the small size of the aberration.
Cena za kus: pro registrované
TP53 is a tumor suppressor gene often described as the guardian of the genome. Deletions and/or mutations can be detected in a wide range of hematological neoplasms and are the most common genetic aberrations in human cancer. The neurofibromin 1 gene (NF1), located at 17q11.2, is a tumor suppressor gene negatively regulating the RAS signal transduction pathway. Germline-loss of function can cause neurofibromatosis type I, a congenital genetic disorder of the nervous system which usually appears during childhood. Somatic deletions of NF1 are detected in about 3.5-7% of de novo acute myeloid leukemia (AML) cases and are often associated with a complex aberrant karyotype. Mutations in the remaining NF1 allele are reported with varying frequency. NF1 deleted cells have a decreased sensitivity to Ara-C in cell culture studies.
FISH is a valuable tool for the detection of NF1 deletions which might be easily overlooked by conventional cytogenetics due to the small size of the aberration.
Cena za kus: pro registrované
