Determinación de la frecuencia genotípica y fenotípica de los polimorfismos 2548G>A del gen LEP y Gln223Arg del gen LEPR en niños con Leucemia Linfoblástica Aguda de SOLCA Cuenca y Loja

Abstract

Acute lymphoblastic leukemia (ALL) is the neoplasia with the highest percentage whitin the infant population in Ecuador, it can come with repercussions in the nutritional state of these kids therefore the present study was looking for to determinate the genotype and allelic frequencies of the polymorphism 2548G>A of the LEP gene and GLN223ARG of the LEPR gene in pediatric oncology patients put to your relationship with food intake.. This work was developed through a descriptive study; in 160 patients with ALL all of whom were being attended in SOLCA Loja and SOLCA Cuenca, the participants collaborated in a voluntary way and gave their acceptance through informed consent, the study has the approbation from the Human Research Ethics Committee of the SFQU. Data recollection was obtained through medical record revision, 5ml of blood was taken from each patiente, from the samples genomic material was obtained then DNA, quantification tests and electrophoresis thereof, finally the detection of the polymorphisms 2548G>A and Gln223Arg was made trough real time PCR technique. It was determined that the genotypic frequencies for 2548G> A were 19% A / A and 81% G / A, with a predominance of the allele (A) with 59% and allele (G) 41% on the other hand for GLN223ARG the genotype and allelic frequencys were 34% A/A, 66% A/G, (A) 68% and (G) 32% respectively. In both medical centers was identified an equivalency in the frequency distribution of the patients, heterozygous group was predominant for both polymorphisms. It was determined that there is an equivalence regarding the distribution of the genotypic and allelic frequencies in both groups of patients, being predominant the heterozygous group for both polymorphism. Finally it was determined that there is no association between the polymorphism in the study with BMI, shown by a confidence interval of 95% was used and p<0.05.