%0 Journal Article
%T ACTN3基因R577X多态位点研究进展<br>Research Progress on R577X Polymorphism of ACTN3 Gene
%A 沈丽媛
%A 王川均
%A 何震宇
%J Hans Journal of Biomedicine
%P 378-385
%@ 2161-8984
%D 2023
%I Hans Publishing
%R 10.12677/HJBM.2023.134044
%X ACTN3是一种仅在II型快肌纤维中表达的分子，它能提供极其强大且快速的肌肉收缩功能。ACTN3 R577X位点是一种常见的多态位点，三种相应的基因型分别是RR、RX、XX，与耐力、爆发力、肌肉代谢、肌肉衰老及某些疾病等具有潜在关联性。检测该多态位点，明确个体ACTN3 R577X多态位点的基因型，有利于为运动员提供优化训练方案及阐明相关疾病的分子机制。本文将对ACTN3基因R577X多态位点的相关机制、检测方法、研究进展进行综述。<br />
ACTN3 is a molecule expressed only in type II fast-twitch muscle fibers, which provides extremely powerful and rapid muscle contraction. The ACTN3 R577X locus is a common polymorphic locus, with three genotypes, RR, RX, and XX respectively, which is potentially associated with endurance, explosive strength, muscle metabolism, muscle aging, and certain diseases. Detecting this polymorphic locus and clarifying the genotypes of individual ACTN3 R577X polymorphic locus will be helpful to provide optimal training programs for athletes and research instructions for related diseases, etc. In this paper, we will summarize the mechanism, detection method and research progress of ACTN3 R577X polymorphic locus.
%K ACTN3基因，运动能力，R577X多态位点，SNP检测方法<br>ACTN3 Gene
%K Athletic Ability
%K R577X Polymorphic Locus
%K SNP Detection Method
%U http://www.hanspub.org/journal/PaperInformation.aspx?PaperID=73856