维吾尔族和汉族人群RANTES基因多态性特征及其对HIV-1感染的意义

目的　分析RANTES启动子区等位基因在中国维吾尔族和汉族健康人和HIV 1感染者中的分布特点 ,以期阐明RANTES基因突变型和人类免疫缺陷病毒(HIV 1 )感染在不同民族人群的关系。方法　利用PCR RFLP法对维吾尔族和汉族HIV 1感染者和健康人群的 86 5份样品的RANTES 4 0 3、 2 8等位基因进行检测。结果　两个位点在维吾尔族和汉族人群均有较高的等位基因频率 ,分布基本一致 ;RANTES等位基因具有 6个基因表型 ,分别为AC/AC、AC/AG、AC/GC、AG/GC、GC/GC和AG/AG ;从单倍型看 ,汉族和维吾尔族均以GC为最高 ,占 6 2 7% ,AC分别为 2 8 7%和 30 4 % ,AG分别为 8 6 %和 6 8%。但是从单个位点看 ,HIV感染者和健康人、吸毒者差异均无统计学意义(P >0 0 5 ) ;从基因表型分析 ,与AC/AC比较 ,AC/AG、AC/GC、AG/GC、GC/GC的OR值显示都有不同程度的关联(OR =0 33～0 81 )。结论　汉族和维吾尔族中RANTES启动子区 4 0 3/ 2 8均有较高的突变频率 ;与AC/AC比较 ,AC/AG、AC/GC、AG/GC、GC/GC的OR值显示都有不同程度的保护作用

Characterization of variants in the RANTES gene in Han and Uiygur Chinese population and its implication in HIV-1 infection

Objective To detect the single nucleotide polymorphism(SNP) of chemokine RANTES promoter of healthy and HIV 1 infected individuals of Han and Uiygur Chinese population, and to evaluate the correlation of their SNPs with HIV 1 infection. Methods Case control study was adopted ,Genotypies of RANTES promoter 403 and 28 from 863 samples were detected by DNA sequencing or by polymerase chain reaction restriction fragment length polymorphism. Results There were two SNPs and six genotypes in Chinese Han and Uiygur. 403 and 28 allelic frequencies were high, but there was no significant difference between the two healthy populations. Strong linkage disequilibrium was observed between the two SNPs. RANTES genotypes were AC/AC, AC/AG, AC/GC, AG/GC, GC/GC, and AG/AG. The haplotypes were GC 62 7% in both rases, AC 28 7% and 30 4%, AG 8 6% and 6 8% in Han and Uiygur, respectively. Compared with AC/AC, odd ratio (OR) of RANTES genotypes AC/AG, AC/GC, AG/GC, and GC/GC was associated with reduced susceptibility to HIV 1 infection. Conclusion Same high RANTES promoter mutation was found in Han and Uiygur populations. Compared with AC/AC, odd ratio (OR) of RANTES genotypes AC/AG, AC/GC, AG/GC 9.9%, and GC/GC might be associated with reduced susceptibility to HIV 1 infection. Further study of the implicated in needed