Key result
Real-time PCR genotyping for ACTN3 polymorphisms achieves up to 100% concordance with traditional PCR-RFLP.
Population
144 Italian subjects (102 male subjects from the general population and 42 athletes)
Comparison
Real-time PCR genotyping of R577X and Q523R… vs Traditional PCR-RFLP approach
Design
Cross-sectional
Authors
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Enables scalable ACTN3 genotyping in research; leaves open clinical utility in exercise cardiology.
Cross-Sectional (n=144)
Real-time PCR is an effective and highly concordant method for genotyping ACTN3 alleles compared to traditional PCR-RFLP.
Paparini et al. (2007) reported a cross-sectional. Real-time PCR genotyping vs. PCR-RFLP was evaluated on Concordance between PCR-RFLP and real-time PCR results for Q523R and R577X polymorphisms. Real-time PCR genotyping for ACTN3 polymorphisms demonstrated 100% and 93% concordance with traditional PCR-RFLP for Q523R and R577X, respectively.
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