Búsqueda de selección en los Polimorfismos 1298a>C (C.1286a>C) (RS1801131) (P.E429A) y 677C>T (C.665C>T) (RS1801133) (P.A222V) del gen de la Metilentetrahidrofolato Reductasa (MTHFR) en una población colombiana
Thesis
Folate is not synthesized by humans, but can be found in natural and synthetic sources such as folic acid; its importance lies in the participation in the maintenance of cellular homeostasis, gene regulation processes, nucleotide synthesis, DNA replication, amino acid production and homocysteine regulation. In order to fulfill its functions, folate is metabolized in the folic acid cycle, where the participation of the MTHFR enzyme is fundamental. Alterations in this enzyme, such as those caused by the polymorphisms of the MTHFR gene, are related to susceptibility for important diseases and some weaken the process of viral replication avoiding the progression to diseases, this is the case of HIV.The c.677 C> T and c.1298 A> C MTHFR polymorphisms, have been studied associated with different pathologies related with methionine recycling or cell cycle disorders, however, there are few population genetic data from the Colombian population, and are totally absent the analysis between polymorphism and susceptibility to diseases such as AIDS.The population genetic study of these MTHFR polymorphisms, evaluated the genotypes of the volunteer participants, analyzed allelic frequencies, selection in favor of heterozygotes, population structure, and possible linkage of the two polymorphisms, using DNA extraction and real time PCR genotyping.The study allowed to establish a possible process of natural selection that favors heterozygotes with respect to the 677C> T polymorphism; it is not very clear the result of the 1298A> C polymorphism of the MTHFR gene. There is a significant difference between allelic frequencies in patients with HIV compared with healthy ones, which is the start point towards studies that could demonstrate that the presence of some SNPs, by preventing viral replication of HIV, delays the progression of the disease.
