Determinación de frecuencias genotípicas y alélicas de los polimorfismos genéticos de MTHFR 677C>T (rs1801133) y MTHFR 1298A>C (rs1801131) en niños con leucemia linfoblástica aguda de SOLCA - Loja y SOLCA - Cuenca

Abstract

Acute lymphoblastic leukemia (ALL) is one of the most frequent oncopathologies in children, occupying the first place among the five types of cancer with the highest incidence in Ecuador. Objective: To determine the genotypic and allelic frequencies of the genetic polymorphisms of MTHFR 677C> T (rs1801133) and MTHFR 1298A> C (rs1801131) in children with acute lymphoblastic leukemia from SOLCA - Loja and SOLCA – Cuenca. Methodology: The analysis of two polymorphisms was carried out, this by means of a cross-sectional descriptive study; where 160 pediatric patients were evaluated between men and women diagnosed with ALL from SOLCA - Cuenca and SOLCA - Loja. They participated voluntarily and signed their acceptance through informed consent and consent. The detection of MTHFR 677C> T and 1298A> C polymorphisms was carried out using the real-time PCR technique. The descriptive statistical analysis was developed through the software IBM SPSS (version 22) and the bioinformatic program SNPStats. Results: It was determined that the genotypic frequencies for the SNP MTHFR 677C>T were 25% C/C and 75% C/T with an allelic frequency of 38% for the mutated allele (T). For the SNP MTHFR 1298 A>C a genotypic frequency of 2% A/A, 16% A/C and 82% C/C was found, while its allelic frequency was 90% for the mutated allele (C). No genotypic or allelic association was found with any of the intervening variables (p> 0.05), nor was there a statistically significant correlation of the polymorphisms mentioned and the type of ALL risk.