Abstract Among autoimmune diseases, systemic lupus erythematosus (SLE) stands out. This disease is characterized by the involvement of several organs and systems, including the central nervous system, in which it produces various complications, some rare or documented in the literature, which makes its diagnosis difficult, resulting in delays for its treatment. Many of these complications occur after the initial diagnosis of SLE; for that reason, a neurological evaluation is recommended in the follow-up of patients with SLE.

Resumen Dentro de las enfermedades autoinmunes destaca el lupus eritematoso sistémico (LES). Esta enfermedad está caracterizada por la afectación de varios órganos y sistemas, entre ellos el sistema nervioso central, en el cual produce diversas complicaciones, algunas poco comunes o documentadas en la literatura lo que dificulta su diagnóstico, y que conlleva a demoras en su tratamiento, pues muchas de estas ocurren después del diagnostico inicial de LES, y es la razón por la que se recomienda la valoración neurológica durante el seguimiento de pacientes con esta enfermedad.

The hRAD54 gene is a key member of the RAD52 epistasis group involved in repair of double-strand breaks (DSB) by homologous recombination (HR). Thus, alterations of the normal function of these genes could generate genetic instability, shifting the normal process of the cell cycle, leading the cells to develop into cancer. In this work we analyzed exon 18 of the hRAD54 gene, which has been previously reported by our group to carry a silent polymorphism, 2290 C/T (Ala730Ala), associated to meningiomas. We performed a PCR-SSCP method to detect the polymorphism in 239 samples including leukemia and normal control population. The results revealed that the 2290 C/T polymorphism has frequencies of 0.1 for the leukemia and 0.1 for the control group. These frequencies show no statistical differences. Additionally, we dissected the leukemia group in chronic myelogenous leukemia (CML) and acute lymphoblastic leukemia (ALL) to evaluate the polymorphism. The frequencies found in these subgroups were 0.14 for CML and 0.05 for ALL. We found statistically significant differences between CML patients and the control group (p < 0.05) but we did not find significant differences between ALL and the control group (p > 0.05). These results suggest a possible link between the 2290 C/T polymorphism of the hRAD54 gene and CML.