The ACTN3 p.Arg577Ter Genetic Variants Biomarker of the Fitness Performance, in Oaxaca Amerindian Population

Abstract

Backgrond. ACTN3 is primarily expressed in fast skeletal muscle fibres. A common nonsense polymorphism in this gene is ACTN3 R577X (rs1815739:C>T) results in replacement of an arginine (R) with a premature stop codon (X) at amino acid 577 in the fast muscle protein α-actinin-3, which causes an absolute deficiency of α-actinin-3 protein and alterations in muscle metabolism. A common null polymorphism in the ACTN3 gene The ACTN3 p.Arg577Ter allele (p.R577* or R577X) has undergone positive selection, with an increase in the X allele frequency as modern humans migrated out of Africa into the colder, less species-rich Eurasian climates Aim. Analized the frequency of allele or genotypes from ACTN3 p.Arg577Ter genetic variants biomarker of the fitness performance, in Oaxaca Amerindian population. Methods. From people of different ethnic groups the State of Oaxaca, DNA was extracted from peripheral blood to extract DNA using the geneKatcher kit (invitrogene), to amplify the polymorphism p.Arg577Ter was realized by qRT_PCR, using tqman probes by determined by allelic discrimination. Results. The more frequency allele is wild type R in all populations, more tan 50%. The Genotype more prevalent is heterocygote RX. In afromexican population Genotype XX o ter-X/ter-X is a allelic variant. Distribution allelic and genotype is verry heterogenus in the populations. In conclusión the ACTN3 R577X gene variant can be used as a clinical marker for the selection of sports talents in the state of Oaxaca, considering that it has already been validated at the population level, with the R allele being more frequent in the state, which is the one associated with a greater selective advantage in sports that require muscular strength and greater physical performance.