Frecuencias genotípicas y alélicas de los polimorfismos genéticos de SLC19A1 (rs2838956) y ABCB1 (rs1128503) en pacientes pediátricos con leucemia linfoblástica aguda de SOLCA-Loja y SOLCA-Cuenca

Abstract

Acute lymphoblastic leukemia (ALL) is considered the most frequent cancer in pediatric age; it affects more children between 2 to 8 years old and adolescents, being more common in males than in females. Objective: Objective: To determine the genotypic and allelic frequencies of the genetic polymorphisms of SCL19A1 (rs2838956) and ABCB1 (rs1128503) in pediatric patients with acute lymphoblastic leukemia from SOLCA - Loja and SOLCA - Cuenca. Methodology: In the present work two polymorphisms were analyzed, which were developed through an observational cross-sectional descriptive study; 164 pediatric patients were evaluated, between men and women, which are distributed in 138 patients of SOLCA-Cuenca and 26 patients from SOLCA-Loja who voluntarily signed the respective informed consent. The intervening variables to be determined were age, gender, body mass index (BMI) and origin of the patient, as well as the dependent variables that allowed us to determine the presence / absence of polymorphism 80G˃A and 1236C˃T, for the detection of Indicated polymorphisms were performed using the real-time PCR technique (q-PCR). Data analysis: For the statistical analysis, we worked with a confidence interval of 95% and p˂0.05. The software package IBM SPSS (version 25), bioinformatic program SNPStats and Microsoft Excel Office 2016 was used. Results: In the case of the SNP 80G˃A of the SLC19A1 gene, the allelic frequencies were 31.1% for the recessive allele A and 68.9% for the dominant allele G, and the genotypic ones were 37.8% G / G, 62.2% G / A. On the other hand, for the SNP 1236C˃T of the ABCB1 gene, 48.2% were obtained for allelic frequencies for T, and 51.8% for C, and their genotypes were 25% C / C, 53.7C / T and 21.3T / T. Among the study SNPs and gender, it is observed that the two polymorphisms are more common in males (56.1%) than in females (43.9%).