吴剑 高玉雪 杨鹏翔 郭向华

    [摘要] 目的 调查北方汉族与蒙古族人群α-辅肌动蛋白3(ACTN3)基因R577X多态性频率分布特征。 方法 2019年9—11月选择在北京佑安医院参与健康体检的北方汉族人群85名和包头医学院蒙古族2019级预科班的健康体检人群58名作为研究对象。用高通量荧光实时定量聚合酶链式反应分析不同种族、性别ACTN3基因R577X多态性。 结果 3种基因型在不同组人群中均符合Hardy-Weinberg平衡。北方汉族基因型频率(RR)、等位基因频率(R)高于蒙古族人群，差异有统计学意义(P 0.05)。北方汉族与蒙古族不同性别的不同基因型频率、等位基因频率比较，差异无统计学意义(P > 0.05)。 结论 北方汉族与蒙古族人群ACTN3基因R577X基因型频率和等位基因频率差异与性别无关，与爆发力相关的RR基因型频率在北方汉族人群中较高，反映耐力的XX基因型频率在蒙古族人群中较高。

    [关键字] α-辅肌动蛋白3;多态性;基因;北方汉族人群;蒙古族人群

    [中图分类号] R394.112? ? ? ? ? [文献标识码] A? ? ? ? ? [文章编号] 1673-7210(2020)09(a)-0038-04

    [Abstract] Objective To investigate the frequency distribution characteristics of α-actinin 3 (ACTN3) gene R577X polymorphism in northern HanZú and MongguZú populations. Methods From September to November 2019， a total of 85 northern HanZú people who participated in the health checkup at Beijing You′an Hospital and a total of 58 health checkup population from the 2019 preparatory class of MongguZú in Baotou Medical College were selected as the research objects. High-throughput fluorescence real-time quantitative polymerase chain reaction was used to analyze the R577X polymorphism of ACTN3 gene of different races and genders. Results The three genotypes were in accordance with Hardy-Weinberg equilibrium in different groups of people. The genotype frequency (RR) and allele frequency (R) of the northern HanZú population were higher than those of the MengguZú population ......