Desgranges C, Carvajal P, Afani A, Guzman M A, Sasco A, Sepulveda C
U271 INSERM, 151 cours A Thomas, 69003, Lyon, France.
Immunol Lett. 2001 Mar 1;76(2):115-7. doi: 10.1016/s0165-2478(00)00328-x.
A 32-basepair deletion polymorphism in the CCR5 chemokine receptor gene (CCR5Delta32) has been identified and shown to have functional significance in determining susceptibility to infection by human immunodeficiency virus type 1 (HIV-1) and possibly in influencing disease progression in HIV-1 positive individuals. These findings led to an interest in studies of DeltaCCR5 allele geographical distribution in human population, for complete understanding of the role of CCR5 in HIV-1 epidemiology. Inter-population variation in CCR5Delta32 frequency may be a significant factor in the prediction of AIDS endemicity. In this report we assessed the frequency of DeltaCCR5 in a Chilean population (63 HIV-1 infected and 62 non-infected individuals). No homozygous CCR5Delta32 individual was identified, and no significant difference was observed between HIV-1 infected (3/63) and non-infected (3/62) individuals for the heterozygote CCR5Delta32 state. This is the first evidence of the contribution of DeltaCCR5 allele to the genetic background of the Chilean population, which is characterized by intense ethnic admixture and by gene flow from the European Spanish gene pool.
已在CCR5趋化因子受体基因中鉴定出一种32碱基对缺失多态性(CCR5Delta32),并显示其在确定对1型人类免疫缺陷病毒(HIV-1)感染的易感性以及可能影响HIV-1阳性个体的疾病进展方面具有功能意义。这些发现引发了对人类群体中DeltaCCR5等位基因地理分布研究的兴趣,以便全面了解CCR5在HIV-1流行病学中的作用。CCR5Delta32频率的群体间差异可能是预测艾滋病流行程度的一个重要因素。在本报告中,我们评估了智利人群(63名HIV-1感染者和62名未感染者)中DeltaCCR5的频率。未鉴定出纯合CCR5Delta32个体,并且在HIV-1感染者(3/63)和未感染者(3/62)之间,杂合子CCR5Delta32状态未观察到显著差异。这是DeltaCCR5等位基因对智利人群遗传背景有贡献的首个证据,智利人群的特点是有强烈的种族混合以及来自欧洲西班牙基因库的基因流动。