Quantitative determination of circular DNA fragments of the T- and B-cell receptor TREC/KREC in patients with ataxia-telangiectasia with a mutation in the ATM gene

Purpose. Evaluate the diagnostic significance of quantitative determination of T- and B-cell receptor DNA ring fragments in peripheral blood of patients for diagnosis of ataxia-teleangiectasia. Materials and methods. The subjects of the study were peripheral blood samples from 14 patients diagnosed with ataxia-teleangiectasia aged 4.9 (1.6; 14.4) years with mutations in the ATM gene and from 40 healthy children aged 11.0 (6.7; 14.8) years. Results and discussion. Patients with ataxia-teleangiectasia revealed a significant decrease in TREC and KREC values (p<0.05) compared to the control group of healthy children. Diagnostic sensitivity and specificity concerning the use of TREC determination (92.8% and 93.4% respectively) and KREC (85.7% and 96.7% respectively) in patients with ataxia-telangioectasia allow the use of this analysis in laboratory practice. Conclusion. The method of quantitative determination of TREC and KREC due to high values of sensitivity and specificity of the applied technique can be used in the diagnosis of ataxia-teleangiectasia.