A family screening of CD19 gene mutation by PCR-RFLP

Introduction and aim. Mutation(s) in the gene encoding CD19 molecule affect protein expression primary immunodeficiency (PID) occurs. The PCR-RFLP method, which is faster cheaper than other mutation detection methods, rarely used diagnosis of PID. study aimed to genetically identify deficiency, a PID, using method. Material methods. A total 8 patients two healthy controls were included relevant region genotypes determined by performing analysis. Results. index case, newborn baby mother also study. It was that case (P6) homozygous mutant, (P7) (P8) had heterozygous genotype. Based on this situation, one child (P1) found be (P2), father (P3) children (P4 P5) genotype family, related first case. Conclusion. In our study, it has been shown method can PID determining PCR-RFLP, especially terms rapid genetic testing family screenings.