Abstract:

Purpose: Mutations in the DCLRE1C gene cause functional disruption of the Artemis protein and the development of the T/B cell is negatively affected. As a result of this mutation, a severe combined and combined immune failure (CID) clinic is usually present. In the area where parental marriages are common, CID cases associated with this mutation are often found. Therefore, suspicious patients should be assessed without losing time in terms of the relevant genetic mutation. It is clear that more complex and costly methods are used in the detection of mutations, but it requires cheaper and faster methods. Therefore, in the study DCLRE1C genes exon 3 (c.194C>T; p.T65I) and exon 14 (c.1669_1670insA; p. T577Nfs*21) mutations were intended to be determined using the method Polymorphism of length (PZR-RFLP) Polymerase Chain Reaction-Restriction Part. Patients and Method: The study included 14 patients, 2 parents and 10 healthy checks followed by DCLRE1C mutation in our clinic between the years 2017-2020. PZR-RFLP analysis was carried out with primates containing mutation areas and appropriate restriction enzymes. Results: The analysis found that 12 patients with DCLRE1C gene were homozigot mutant in terms of exon 3, 2 parents were heterozigot in terms of exon 3, 2 patients were heterozigot in terms of exon 3 and exon 14 were composed heterozigot in terms of genotype. The mutations were confirmed by the Sanger DNA sequence. Mutations in the area related to the PZR-RFLP method were quickly and reliably identified. The study has shown that the PZR-RFLP method is a cheap, secure and fast method that can be used in cases such as detection of known mutations in primary immune failure and family scan.