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- W2100047387 abstract "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.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.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.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.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.el gen ELMO1 tiene su locus en 7p14.2-14.1 y codifica para una proteína que regula la fibrogénesis, migración celular, fagocitosis, y apoptosis. Tiene diferentes variaciones de cambio de una sola base asociadas con nefropatía diabética. En la población mexicana no hay estudios de variantes de este gen, y es necesario conocerlas porque pueden ser polimorfismos que posteriormente se usen en estudios de asociación.estimar la frecuencia de alelos y genotipos del polimorfismo rs1345365 del gen ELMO1 en población mestiza del Occidente y de la región sureste de México. MATERIAL Y MÉTODOS: estudio descriptivo de alelos y genotipos del polimorfismo rs1345365 que se identificó con PCR-PASA y PAGE 7% teñida con nitrato de plata.se incluyeron 322 individuos y el alelo más frecuente en las dos poblaciones es el de referencia (A). Se encontró una distribución diferente a otras poblaciones respecto a los genotipos. En ambas poblaciones está en equilibrio de Hardy-Weinberg p< 0.05.el estudio revela una baja frecuencia del genotipo ancestral en población mexicana del polimorfismo rs1345365." @default.
- W2100047387 created "2016-06-24" @default.
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- W2100047387 date "2014-08-29" @default.
- W2100047387 modified "2023-10-16" @default.
- W2100047387 title "[Polymorphism g.37190613 G>A of the ELMO1 gene in the Mexican population: potential marker for clinical-surgical pathology]." @default.
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