Abstract
La variación somática intraindividual (VSI) se describe como la diferencia genética entre los tejidos de un mismo individuo. La VSI se incrementa conforme avanza la edad y se asocia con alteraciones neurológicas, hematológicas e inmunes y, de manera especial, con cáncer, aunque puede no manifestar un fenotipo definido.1Para analizar la posible VSI en pacientes mexicanos con cáncer colorrectal (CCR), Yang et al.2 estudiaron el polimorfismo rs669 (c.2998 A>G, p.Ile1000Val) del gen A2M que codifica para la proteína alfa-2 macroglobulina, una inhibidora de proteasas involucrada en la progresión y proliferación del tumor. Esta variante se localiza cerca de un sitio tioéster, necesario para la función inhibidora de la proteína.
Highlights
Intra-individual somatic variation of the rs[669] polymorphism in the A2M gene in patients with colorectal cancer
To analyze possible individual somatic variation (ISV) in Mexican patients with colorectal cancer (CRC), we studied the polymorphism rs[669]
The variant was selected based on previous research conducted by Ramirez-Plascencia.[3]. She determined that the frequency of the G allele in peripheral blood was 0.35 in 146 healthy individuals from western Mexico, who had an average age of 42 years within a range of 19 to 48 years; 62% of the participants were men
Summary
Intra-individual somatic variation of the rs[669] polymorphism in the A2M gene in patients with colorectal cancer. Universidad de Guadalajara - Centro Universitario de Ciencias de la Salud - Department of Molecular Biology and Genomics - PhD in Human Genetics - Guadalajara - Mexico.
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