Relationship of an hRAD54 gene polymorphism (2290 C/T) in an Ecuadorian population with chronic myelogenous leukemia

Genetics and Molecular Biology

César Paz-y-miño¹  Andrés López-cortés¹  María José Muñoz¹  Bernardo Castro¹  Alejandro Cabrera¹  María Eugenia Sánchez¹ 

[1],Universidad de las Américas Facultad de Ciencias de la Salud Instituto de Investigaciones Biomédicas Quito ,Ecuador

关键词: cancer;    leukemia;    CML;    ALL;    hRAD54;    2290 C/T polymorphism;   

DOI  :  10.1590/S1415-47572010005000095

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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