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