한국 청소년 운동선수 및 일반학생들의 ACTN3 유전자에 존재하는 Q523R 및 R577X 다형성 분포 = The Distribution of Q523R and R577X Polymorphisms in the ACTN3 Gene among Korean Adolescents and Young Athletes

다국어 초록 (Multilingual Abstract)

Multiple genetic and environmental factors contribute to athletic performance. In the light of the polygenic nature of this trait, it is likely that multiple genetic loci will be responsible. Among them, α-actinin 3 (ACTN3) gene are one of those that may be implicated in athletic performance. The goal of our study was to clarity the relationship between two genetic polymorphisms (Q523R and R577X polymorphisms) of ACTN3 gene and athletic performance in the korean adolescents and young athletes. The subjects were made up of elite athletes (n=174) and control group (n=50). Total genomic DNA were isolated from peripheral blood of subjects, and polymerase chain reaction (PCR) carried out to identify the genotype distribution of two genetic polymorphisms in the ACTN3 gene. By our study, there were no significant differences in genotype and allele frequencies of Q523R polymorphisms between controls and elite athletic groups, but R577X polymorphisms was significantly associated with elite athletic status (P<0.05). Although this association was denied when our subjects were dassified by endurance group and sprinter/power group, our data suggest that the R577X polymorphism of ACTN3 gene may influence athletic performance in the korean adolescents and young athletes.

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