Luz Rosalba Topete-González1, Sergio Alberto Ramirez-Garcia2, Claudia Charles-Niño3, Nemesio Villa-Ruano2, Clemente Mosso-González2, Nory Omayra Dávalos-Rodríguez4. 1. Laboratorio de Variación Genética y Enfermedad, Instituto de Genética Humana, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara, Guadelajara, Jalisco, MMexico. 2. Universidad de la Sierra Sur, Sistema de Universidades Estatales de Oaxaca (SUNEO), Miahuatlán de Porfirio Díaz, Oaxaca, Mexico. 3. Doctorado de Farmacología, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara, Guadelajara, Jalisco, MMexico. 4. Laboratorio de Variación Genética y Enfermedad, Instituto de Genética Humana, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara, Guadelajara, Jalisco, Mexico. sergio7genetica@Hotmail.com.
Abstract
BACKGROUND: ELMO1 is a gene located at locus 7p14.2-14.1 that codifies a regulatory protein involved in fibrogenesis, cell migration, phagocytosis and apoptosis. This gene presents a single nucleotide polymorphism, which appears to be linked with the development of diabetic nephropathy. OBJECTIVES: Currently, there are no studies in regard to the presence of such polymorphism in the Mexican population. Therefore, the aim of this work was to estimate the frequency rate of alleles and genotypes of polymorphism rs1345365 from ELMO1 in Mexican mestizos who inhabit the west and the southeast regions of Mexico in order to generate reliable data for further association studies. METHODS: There were 322 individuals who were screened for the identification of polymorphism rs1345365 using genomic DNA from leucocytes as a template for PCR-PASA reactions. Amplicons were separated in 7% PAGE and visualized after staining with silver nitrate. RESULTS: The reference allele (A) was the most frequent in both western and southeastern populations of Mexico. In addition, a different genotype distribution was found with respect to other populations. The results of this study indicate that both populations are in Hardy-Weinberg equilibrium. CONCLUSION: This study also reveals a low frequency rate of the ancestral genotype for the polymorphism rs1345365 in mestizos from the western and southeastern regions of Mexico.
BACKGROUND:ELMO1 is a gene located at locus 7p14.2-14.1 that codifies a regulatory protein involved in fibrogenesis, cell migration, phagocytosis and apoptosis. This gene presents a single nucleotide polymorphism, which appears to be linked with the development of diabetic nephropathy. OBJECTIVES: Currently, there are no studies in regard to the presence of such polymorphism in the Mexican population. Therefore, the aim of this work was to estimate the frequency rate of alleles and genotypes of polymorphism rs1345365 from ELMO1 in Mexican mestizos who inhabit the west and the southeast regions of Mexico in order to generate reliable data for further association studies. METHODS: There were 322 individuals who were screened for the identification of polymorphism rs1345365 using genomic DNA from leucocytes as a template for PCR-PASA reactions. Amplicons were separated in 7% PAGE and visualized after staining with silver nitrate. RESULTS: The reference allele (A) was the most frequent in both western and southeastern populations of Mexico. In addition, a different genotype distribution was found with respect to other populations. The results of this study indicate that both populations are in Hardy-Weinberg equilibrium. CONCLUSION: This study also reveals a low frequency rate of the ancestral genotype for the polymorphism rs1345365 in mestizos from the western and southeastern regions of Mexico.
Entities:
Keywords:
ELMO1 gene; Mexican population; PCR-PASA; extracellular matrix; matriz extracelular; población mexicana; polimorfismo de cambio de una sola base; single nucleotide polymorphism