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     Asian Journal of Medical Sciences


Prevalence of ACTN3 R577X Polymorphism in Chinese University Students

1Gao Peng Hua and 2Zhang Zhi Ming
1Department of Physical Education, Northwestern University, Xi'an, Shannxi 710069
2Department of Clinical Laboratory, Xi'an Central Hospital, Xi'an, Shannxi 710003, P.R. China
Asian Journal of Medical Sciences  2016  4:15-18
http://dx.doi.org/10.19026/ajms.8.3419  |  © The Author(s) 2016
Received: August ‎15, ‎2016  |  Accepted: September 14, 2016  |  Published: December 25, 2016

Abstract

The study on single-nucleotide polymorphism (SNP) of alpha-actinin (ACTN)3 gene was mainly focused on R577X codon (rs1815739), which leads to replacement of an arginine (577R) with a premature stop codon (577X), The ACTN3 R577X polymorphism has been reported to be related to the elite athlete performance, disease and even history of human evolution. The objective of the current study was to analysis genotype and allelic frequencies of ACTN3 R577X in Chinese University Students. We used TaqMan SNP assay for genotyping 638 Chinese Han Nationality University Students. Total of 638 Northwestern University students in this study, of whom 322 were female and 316 were male, The different genotypes were as follow; 32.13% RR (205/638), 51.25% RX(327/638), 16.61% XX (106/638), R allele 0.58(737/1276), X allele 0.42(539/1276). Respectively, 322 female 31.37% RR (101/322), 49.69% RX (160/322), 18.94% XX(61/322),R allele 0.56(362/644), X allele 0.44(282/644). 316 male 32.91% RR (104/316), 52.85% RX(167/316), 14.24% XX (45/316), R allele 0.59(375/632), X allele 0.41(257/632). 638 Northwestern University students in this study were confirmed to have representativeness, It is similar to Iranian population and Caucasian, which is also favors the hypothesis of an adaptive evolutionary history for ACTN3 R577X.

Keywords:

ACTN3, Chinese, polymorphism, students,


References


Competing interests

The authors have no competing interests.

Open Access Policy

This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.

Copyright

The authors have no competing interests.

ISSN (Online):  2040-8773
ISSN (Print):   2040-8765
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