上海地区汉族优秀游泳运动员mtDNA高变区Ⅰ序列多态性分析

目的探讨上海地区汉族不同水平优秀游泳运动员mtDNA高变区Ⅰ序列多态性分布特点.方法分别以89名上海籍汉族优秀游泳运动员和71名上海籍普通人为研究对象,采用PCR产物纯化后直接测序的方法,应用DNASTAR 6.10版序列分析软件对不同人群的序列多态性进行分析,并与剑桥序列进行比对,确定多态位点、类型及频率.结果(1)普通人mtDNA高变区Ⅰ多态位点、碱基变异数及变异率高于运动员,但无明显差异(P＞0.05);(2)普通人和不同等级运动员的多态位点和碱基变异数及变异率存在明显差异(P＜0.05),变化趋势为普通人＞总体运动员＞一级＞健将;运动员和普通人独有位点在本群体中的频率分布都很低(低于5%);(3)游泳运动员和普通人mtDNA高变区Ⅰ序列多态性主要表现为碱基转换、颠换、插入和缺失4种类型;(4)普通人碱基转换发生频率显著高于健将和一级运动员(P＜0.05),颠换发生频率明显低于运动员(P＜0.05).结论上海地区汉族优秀游泳运动员mtDNA高变区Ⅰ序列的突变率明显低于上海汉族普通人,表现出较为明显的人群特征;游泳运动员独有的多态位点数高于普通人,但在本群体中的频率分布均低于总体多态的5%;游泳运动员和普通人在碱基替换、插入和缺失类型与频率方面存在一定差异,同时与我国其它耐力性项目的优秀运动员也存在一定差异.

Sequence Polymorphism of mtDNA Hypervariable Region I in Elite Swimmers of the Han Nationality in Shanghai

Objective The purpose of the study was to detect the distribution of sequence polymorphism in hypervariable regions I(HVR-I) of mitochondrial DNA(mtDNA) in elite swimmers of Han Nationality with different athletic levels from Shanghai.Methods Eighty nine elite swimmers and 71 non-athletes of the Han Nationality from Shanghai were chosen as the subjects in the study.Polymerase chain reaction(PCR) productions were directly sequenced after purified.The polymorphism was analyzed by DNASTAR 6.10 software and compared with Cambridge reference sequence(CRS) to detect the site,type and frequency of the polymorphism.Results (1)It was shown that the polymorphism site of mtDNA HVR-I sequence and the rate of base mutation were higher in non-athletes than that in swimmers,but the differences were not significant(P>0.05).(2)The polymorphism site,the amount and the rate of base mutation were significantly different between non-athletes and swimmers with different athletic levels(P<0.05),and the trend showed that non-athletes were superior to the swimmers;the swimmers with lower athletic level were superior to that with higher athletic level.(3)The distribution frequency of particular site was low(5%) in swimmers and non-athletes.The polymorphism of mtDNA HVR-I sequence mainly revealed four types,including conversion,reversal,insertion and deletion in the swimmers and non-athletes.(4)The conversion frequency was significantly higher in non-athletes than that in swimmers with higher athletic level,and the reversal frequency was significantly lower in non-athletes than that in swimmers(P<0.05).Conclusions The lower the rate of mutation in mtDNA HVR-I sequence,the higher stability,the lower conversion and the higher reversal frequencies were revealed in swimmers with higher athletic level,domonstrating the characteristics of swimming. The amount of particular polymorphism site was higher in swimmers than that in non-athletes,but the distribution frequencies were 5%lower in the both groups.Further study is needed to confirm whether these site could be used as a gene marker of athletic capacity in swimmers.