Abstract

Background and purpose: Chronic lymphocytic leukemia (CLL) is the most common form of adult leukemia characterized by the accumulation of seemingly mature type B lymphocytes in peripheral blood and lymphatic organs. One of the main markers used in the diagnosis and prognosis of CLL is the CD38 gene. Polymorphism is considered to be a major genetic source of phenotypic change within a species and may be involved in developing the disease. Here, the study of CD38 gene polymorphism (rs 1800561) was done in terms of incidence and relevance to clinical and laboratory parameters in CLL patients. Materials and methods: In order to confirm the CLL disease, CD5, CD19, and CD23 markers were investigated using immunophenotyping. CD38 gene polymorphism was studied in 70 patients with CLL and 70 healthy cases as control using a specific PCR method of polymorphism (Tetra-ARMS-PCR). Statistical analyses were performed in SPSS V18 applying Pearson Chi-Square test. Results: In the patient group, we observed 97 wild-type genotype (CC), 1.5 heterozygote (CT), and 1.5 homozygote (TT). The present study showed that 98.5 of the control subjects had wild-type (CC) and 1.5 had heterozygote (CT). The frequency of C and T alleles in both patients and control groups was 97.9, 2.1, 99.3, and 0.7, respectively. Conclusion: Based on current study, despite differences in frequency of T and C alleles among patients and healthy individuals, no significant difference was found in the occurrence of this polymorphism and the risk of CLL. © 2020, Mazandaran University of Medical Sciences. All rights reserved.