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Title: Simple Method to Genotype the ACTN3 r577x Polymorphism
Authors: Schadock, Ines
Schneider, Augusto
Silva, Elton Dias [UNIFESP]
Duarte Buchweitz, Marcia Rubia
Correa, Marcio Nunes
Pesquero, Joao Bosco [UNIFESP]
Paredes-Gamero, Edgar Julian [UNIFESP]
Araujo, Ronaldo Carvalho [UNIFESP]
Barros, Carlos Castilho
Univ Fed Pelotas
Universidade Federal de São Paulo (UNIFESP)
Issue Date: 1-May-2015
Publisher: Mary Ann Liebert, Inc
Citation: Genetic Testing and Molecular Biomarkers. New Rochelle: Mary Ann Liebert, Inc, v. 19, n. 5, p. 253-257, 2015.
Abstract: The alpha-actinin-3 r577x polymorphism (rs1815739) is one of the most important polymorphisms associated with athletic performance. This single-nucleotide mutation leads to a premature stop codon, resulting in a nonfunctional protein product. the presence of the dominant R allele is associated with full power skeletal muscle contraction. Homozygosity for the X allele is correlated with more efficient energy disposure. Restriction fragment length polymorphism and real-time polymerase chain reaction (PCR) are the standard methods used to genotype this polymorphism, but they are expensive and require special equipments. Here, we present a simple and cost-efficient method to genotype the ACTN3 r577x polymorphism by a single PCR. External primers yield a 690-bp product that indicates the template quality. Internal primers produce a 413-bp product if the R allele is present and a 318-bp product if the X allele is present. Our four-primer genotyping PCR was validated by the standard real-time PCR, generally used to genotype this single-nucleotide polymorphism, demonstrating the accuracy of this method. This protocol is perfect for small- or large-scale cohort genotyping of the ACTN3 r577x polymorphism.
ISSN: 1945-0265
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