中国汉族和维吾尔族艾滋病病毒感染者与未感染人群中CX3CR1基因多态性的分布

目的：调查艾滋病病毒1(HIV-1)亚型辅助受体CX3CRl的V2491和T280M基因突变，在汉族和维吾尔族(维族)普通人群、HIV-1高危人群和感染者中的分布，探讨I249-M280单倍型与HIV-1感染和艾滋病(AIDS)病程的关系。方法：分别选择汉族和维族的普通人群、HIV-1高危人群和感染者，共6组，采取聚合酶链反应／巢式聚合酶链反应．限制性片段长度多态性分析方法，确定249和280密码子是否发生基因突变。采用行列表x^2检验及u检验进行统计学分析，分析同-民族不同人群之间是否存在差异。结果：维族人群I249和M280基因频率分别为16．1％和13.3％，汉族人群分别为3．3％和2．4％，其中感染者高于普通人群，普通人群高于高危人群，但三组之间差异无显著性。CX3CRl的I249和M280之间存在明显的连锁关系(P≈O．O)。结论：中国维族I249-M280单倍型频率(2．8％)明显低于高加索人(12．5％)，I249-M280单倍型频率(13．3％)与高加索人接近(15．8％)，汉族则两者都低得多(O．9％和2．4％)。I249-M280单倍型与HIV-1易感性的关系应进一步研究。

Distribution of HIV-1 coreceptor CX3CR1 allelic polymorphisms in general population HIV-1 high-risk group and HIV-1 carriers of Chinese indigenous Han and Uygur people

OBJECTIVE: To investigate the V249I and T280M allelic polymorphisms of human immunodeficiency virus (HIV) coreceptor CX3CR1 in HIV-1 infected and uninfected population of Chinese indigenous Han and Uygur people and to probe the association between I249-M280 haplotype and HIV-1 susceptibility as well as AIDS progression. METHODS: Genomic DNA of 223 Uygur subjects and 316 Han subjects were purified from PBMC. I249 and M280 allelic frequencies were identified by polymerase chain reaction (PCR)/nest polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. All data were tested by chi(2) or u statistics analysis. RESULTS: Allelic frequencies of I249 and M280 were 16.1% and 13.3% in Uygur people, and 3.3% and 2.4% in Han people. No obvious difference existed between three groups of either ethnic group. However the allelic frequencies of HIV infected population were higher than those of general population, and those of general population higher than those of HIV-1 high-risk group. There was a strong linkage between I249 and M280 (P almost zero). CONCLUSIONS: I249 mutation was the sine qua non of M280 mutation, and most I249 alleles were accompanied by M280. The frequency of I249-M280 haplotype in Uygur population (13.3%) was adjacent to Caucasian people (15.8%), and that of I249-T280 haplotype (2.8%) was obviously lower than Caucasian people (12.5%); while both of them in Han people were much lower (0.9% and 2.4%). I249-M280 haplotype could accelerate AIDS progression according to Faure et al, while might be associated with HIV-1 susceptibility.