- ATM, 11q22.3, Red
- D11Z1, 11p11.1-q11.1, Green
The ATM probe is 182kb, labelled in red, and covers the telomeric end of the NPAT gene and the centromeric end of the ATM gene to just beyond the D11S3347 marker. The probe mix also contains a control probe for the 11 centromere (D11Z1) labelled in green.
The protein kinase ATM (Ataxia-Telangiectasia Mutated) gene, located in 11q22.3, is frequently deleted in cases of B-CLL. ATM is an important checkpoint gene involved in the management of cell damage and its function is to assess the level of DNA damage in the cell and attempt repair by phosphorylating key substrates involved in the DNA damage response pathway. The ATM/P53 (also known as TP53) interaction in B-CLL has been shown to play an important role in the proliferation of lymphoid cancer1. It has been shown that ATM enhances the phosphorylation of P532, should the damage be so great that the cell requires destruction by apoptosis (which is mediated by P53). Deletion of ATM removes this checkpoint activity and hence activation of P53. Thus, there is no attempt made to repair, or apoptosis of, damaged cells, despite the presence of P53. In the absence of ATM, damaged cells are allowed to continue to proliferate. Screening for deletions of ATM and/or P53 is vital to allow informed therapy choices for CLL patients, especially as deletions of P53 and ATM confer poor prognosis3.
In our hands, Cytocell FISH probes, have proven to be of the highest quality with bright, easy to interpret signals, thus providing confidence in our results. Cytocell’s customer support is outstanding, as their staff are extremely knowledgeable and truly care about their customers and their customers’ needs. Jennie Thurston, Director of Cytogenetics at Carolinas Pathology Group
1. Stankovic et al., Blood 2004;103(1):291-300
2. Khanna et al., Nature Genetics 1998;20(4):398-400
3. Zent et al., Blood 2010;115(21):4154-4155
- Area of Interest*
This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed haematological samples.
*Disease information supported by the literature and is not a reflection of the intended purpose of this product.