贵州医科大学学报

2020, v.45;No.236(05) 520-525+578

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趋化因子受体5Δ32突变在中国20个民族群体中的分布
Distributions of CCR5 Δ32 Mutation in 20 Ethnic Groups in China

陶玉芬;史磊;姚宇峰;史荔;刘舒媛;
TAO Yufen;SHI Lei;YAO Yufeng;SHI Li;LIU Shuyuan;Institute of Medical Biology,Chinese Academy of Medical Sciences& Peking Union Medical College;

摘要(Abstract):

目的:探讨趋化因子受体5(CCR5)Δ32突变在中国20个民族群体中的扩散特征。方法:选取中国20个不同民族共计2 788例健康无关个体,抽取外周静脉血提取基因组DNA,采用PCR检测CCR5Δ32突变(结果进行测序验证),分析CCR5Δ32突变在中国20个民族群体中的分布情况,了解CCR5Δ32突变在中国人群中的扩散特征。结果:鄂温克族、回族(宁夏)、塔吉克族中各检测到1例CCR5Δ32基因突变杂合子(rs333 wt/mt),CCR5Δ32突变的频率分别为1. 25%、0. 68%及1. 11%;在云南汉族群体中检测到2例CCR5Δ32基因突变杂合子(rs333 wt/mt),CCR5Δ32突变的频率为0. 04%;其余群体中均未检测到CCR5Δ32基因突变。结论:CCR5Δ32基因突变在北方群体分布较多,符合"北高南低"的趋势。
Objective: To investigate the diffusion characteristics of CCR5 Δ32 mutation in 20 ethnic groups in China. Methods: 2 788 healthy individuals of 20 different ethnic groups in China were selected,and genomic DNA from peripheral venous blood was extracted. The distribution of CCR5 Δ32 mutation in 20 ethnic groups in China was analyzed by PCR detection( the results were verified by sequencing),and the diffusion characteristics of CCR5 Δ32 mutation in Chinese population were understood. Results: A case of heterozygous mutation of CCR5 Δ32 gene( rs333 wt/mt) was detected in Ewenki,Hui( Ningxia) and Tajik. CCR5 Δ32 mutation frequencies were 1. 25%,0. 68% and1. 11%,respectively. The mutation heterozygote( rs333 wt/mt) of CCR5 Δ32 gene was detected in 2 cases in Han population of Yunnan,and the frequency of mutation was 0. 04%. CCR5 Δ32 mutations were not detected in the rest of the population. Conclusion: CCR5 Δ32 gene mutation is more distributed in the northern population,which accords with the trend of " north is high and south is low".

关键词(KeyWords): 基因频率;趋化因子受体5;民族;群体;基因突变;Δ32突变
gene frequency;chemokine receptor 5(CCR5);nationality;population;gene mutation;Δ32 mutation

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基金项目(Foundation): 国家自然科学基金青年科学基金项目(31401063)

作者(Author): 陶玉芬;史磊;姚宇峰;史荔;刘舒媛;
TAO Yufen;SHI Lei;YAO Yufeng;SHI Li;LIU Shuyuan;Institute of Medical Biology,Chinese Academy of Medical Sciences& Peking Union Medical College;

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DOI: 10.19367/j.cnki.2096-8388.2020.05.004

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