Salem Abdel-Halim, Batzer Mark A
Department of Biological Sciences, Biological Computation and Visualization Center, Center for Bio-Modular Multiscale Systems, Louisiana State University, 202 Life Sciences Building, Baton Rouge, LA 70803, USA.
Mutat Res. 2007 Mar 1;616(1-2):175-80. doi: 10.1016/j.mrfmmm.2006.11.024. Epub 2006 Dec 12.
A mutant allele of the beta-chemokine receptor gene CCR5 bearing a 32-basepair (bp) deletion that prevents cell invasion by the primary transmitting strain of HIV-1 has recently been characterized. Individuals homozygous for the mutation are resistant to infection, even after repeated high-risk exposure, but this resistance appears not absolute, as isolated cases of HIV-positive deletion homozygotes are emerging. The consequence of the heterozygous state is not clear, but it may delay the progression to AIDS in infected individuals. In order to evaluate the frequency distribution of CCR5-Delta32 polymorphism among Egyptians, a total of 200 individuals (154 from Ismailia and 46 from Sinai) were tested. Only two heterozygous individuals from Ismailia carried the CCR5-Delta32 allele (0.6%), and no homozygous (Delta32/Delta32) individuals were detected among the tested samples. The presence of the CCR5-Delta32 allele among Egyptians may be attributed to the admixture with people of European descent. Thus we conclude that the protective deletion CCR5-Delta32 is largely absent in the Egyptian population.
β趋化因子受体基因CCR5的一个突变等位基因带有32个碱基对(bp)的缺失,该缺失可阻止HIV-1主要传播株对细胞的侵袭,最近已得到鉴定。该突变的纯合个体即使在反复高风险暴露后仍对感染具有抗性,但这种抗性似乎并非绝对,因为出现了HIV阳性缺失纯合子的个别病例。杂合状态的后果尚不清楚,但它可能会延缓感染个体发展为艾滋病的进程。为了评估埃及人中CCR5 - Δ32多态性的频率分布,共对200名个体(154名来自伊斯梅利亚,46名来自西奈)进行了检测。在伊斯梅利亚仅发现两名携带CCR5 - Δ32等位基因的杂合个体(0.6%),在检测样本中未检测到纯合(Δ32/Δ32)个体。埃及人中CCR5 - Δ32等位基因的存在可能归因于与欧洲血统人群的混合。因此我们得出结论,保护性缺失CCR5 - Δ32在埃及人群中基本不存在。