Journal article
ACTN3 genotyping by real-time PCR in the Italian population and athletes
Medicine & Science in Sports & Exercise, Vol.39(5), pp.810-815
2007
Abstract
PURPOSE: Development of two novel sets of primers and probes to detect R577X and Q523R polymorphisms of the α-actinin-3 (ACTN3) gene by real-time PCR. We report the allelic frequencies observed in Italian individuals from the general population and athletes. Athletic performance is influenced by training, environmental factors, and genetic predisposition. Actn3 belongs to a family of actin-binding proteins and is supposed to influence sport performance. METHODS: Primer-probe set design and protocol optimization for real-time PCR genotyping of R577X and Q523R polymorphisms. The assay was verified using a traditional PCR-RFLP approach and applied on an Italian population sample (102 male subjects and 42 athletes). RESULTS: Haplotype distribution confirmed the presence of linkage disequilibrium between the polymorphisms, both in the Italian general population and athletes (respectively: χ = 54.4, P ≤ 0.001 and χ = 24.5, P ≤ 0.001). Within the general population, a large percentage of homozygous subjects (21.6%) was deficient for Actn3. No significant differences were observed in athletes. The concordance between PCR-RFLP and real-time PCR results was 100and 93% for polymorphisms Q523R and R577X, respectively. CONCLUSION: Real-time PCR represents an effective approach fortyping ACTN3 alleles. Allelic frequencies in the Italian population are consistent with those seen in other studies on Caucasians.
Details
- Title
- ACTN3 genotyping by real-time PCR in the Italian population and athletes
- Authors/Creators
- A. Paparini (Author/Creator) - Centre for Water ResearchM. Ripani (Author/Creator)G.D. Giordano (Author/Creator)D. Santoni (Author/Creator)F. Pigozzi (Author/Creator)V. Romano-Spica (Author/Creator)
- Publication Details
- Medicine & Science in Sports & Exercise, Vol.39(5), pp.810-815
- Publisher
- Lippincott Williams & Wilkins
- Identifiers
- 991005544967507891
- Copyright
- © 2007 The American College of Sports Medicine
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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- Citation topics
- 1 Clinical & Life Sciences
- 1.55 Urology & Nephrology - General
- 1.55.1904 ACE Genetic Variants
- Web Of Science research areas
- Sport Sciences
- ESI research areas
- Clinical Medicine