Liu Ming-xu, Wang Fu-sheng, Hong Wei-guo, Wang Chang-qing, Wang Bo, Jin Lei, Hou Jing, Lei Zhou-yun
Institute of Infectious Disease, People's Liberation Army 302 Hospital, Beijing 100039, China.
Zhonghua Liu Xing Bing Xue Za Zhi. 2003 Jul;24(7):595-8.
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.
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.
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).
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.
研究人类免疫缺陷病毒(HIV)共受体CX3CR1的V249I和T280M等位基因多态性在中国汉族和维吾尔族HIV-1感染及未感染人群中的情况,并探讨I249-M280单倍型与HIV-1易感性及艾滋病进展之间的关联。
从外周血单个核细胞(PBMC)中提取223名维吾尔族受试者和316名汉族受试者的基因组DNA。通过聚合酶链反应(PCR)/巢式聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析确定I249和M280等位基因频率。所有数据采用卡方或u统计分析。
维吾尔族人群中I249和M280的等位基因频率分别为16.1%和13.3%,汉族人群中分别为3.3%和2.4%。两个民族的三组人群之间均无明显差异。然而,HIV感染人群的等位基因频率高于普通人群,普通人群的高于HIV-1高危人群。I249和M280之间存在强连锁(P几乎为零)。
I249突变是M280突变的必要条件,大多数I249等位基因伴有M280。维吾尔族人群中I249-M280单倍型频率(13.3%)与白种人(15.8%)相近,I249-T280单倍型频率(2.8%)明显低于白种人(12.5%);而汉族人群中两者均低得多(0.9%和2.4%)。根据Faure等人的研究,I249-M280单倍型可能加速艾滋病进展,同时可能与HIV-1易感性相关。