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检测阿联酋人和突尼斯人 CCR5∆32 频率,并筛查阿联酋人 CCR5 基因中的新等位基因。

Determination of the CCR5∆32 frequency in Emiratis and Tunisians and the screening of the CCR5 gene for novel alleles in Emiratis.

机构信息

Department of Pathology, College of Medicine & Health Sciences, United Arab Emirates University, United Arab Emirates.

出版信息

Gene. 2013 Oct 15;529(1):113-8. doi: 10.1016/j.gene.2013.07.062. Epub 2013 Aug 9.

Abstract

BACKGROUND

The chemokine receptor components play crucial roles in the immune system and some of them serve as co-receptors for the HIV virus. Several studies have documented that variants in chemokine receptors are correlated with susceptibility and resistance to infection with HIV virus. For example, mutations in the chemokine receptor 5 gene (CCR5) resulting in loss-of-function (such as the homozygous CCR5∆32) confer high degree of resistance to HIV infection. Heterozygotes for these variants exhibit slow progression to AIDS. The prevalence of CCR5 polymorphisms varies among ethnic and geographical groups. For example, the CCR5∆32 variant is present in 10-15% of north Europeans but is rarely encountered among Africans. This study aims to identify the prevalence of some CCR5 variants in two geographically distant Arab populations (namely Emiratis and Tunisians).

METHODOLOGY

The prevalence of CCR5 gene variants including CCR5∆32, FS299, C101X, A29S and C178R has been determined using PCR and direct DNA sequencing. A total of 403 unrelated healthy individuals (253 Emiratis and 150 Tunisians) were genotyped for the CCR5∆32 variant using PCR amplification and gel electrophoresis. In addition, 200 Emiratis have been screened for other SNPs using Sanger DNA sequencing.

RESULTS

Among Emiratis, the allele frequency of the CCR5∆32 variant has been found to be 0.002. In addition, two variants L55Q and A159 were found at a frequency of 0.002. Moreover, the prevalence of the CCR5∆32 variant in Tunisians was estimated to be 0.013 which is relatively higher than its frequency in Emiratis but lower than Europeans.

CONCLUSION

We conclude that the allele frequency of the most critical CCR5 polymorphism (∆32) is extremely low among Emiratis compared to other Arabs and North Europeans. In addition, very low allele frequencies of other CCR5 polymorphisms have been detected among Emiratis.

摘要

背景

趋化因子受体成分在免疫系统中起着至关重要的作用,其中一些作为 HIV 病毒的共受体。多项研究表明,趋化因子受体的变体与 HIV 病毒感染的易感性和抗性相关。例如,趋化因子受体 5 基因(CCR5)的突变导致功能丧失(如纯合子 CCR5∆32),可高度抵抗 HIV 感染。这些变体的杂合子表现出艾滋病进展缓慢。CCR5 多态性的流行率在不同种族和地理群体中有所不同。例如,CCR5∆32 变体存在于 10-15%的北欧人中,但在非洲人中很少见。本研究旨在确定两个地理位置遥远的阿拉伯人群(即阿联酋人和突尼斯人)中一些 CCR5 变体的流行率。

方法

使用 PCR 和直接 DNA 测序确定 CCR5 基因变体(包括 CCR5∆32、FS299、C101X、A29S 和 C178R)的流行率。使用 PCR 扩增和凝胶电泳对 403 名无关的健康个体(253 名阿联酋人和 150 名突尼斯人)进行 CCR5∆32 变体的基因分型。此外,对 200 名阿联酋人进行了 Sanger DNA 测序以筛选其他 SNPs。

结果

在阿联酋人中,CCR5∆32 变体的等位基因频率发现为 0.002。此外,还发现了两个变体 L55Q 和 A159 的频率为 0.002。此外,突尼斯人中 CCR5∆32 变体的流行率估计为 0.013,相对高于阿联酋人的频率,但低于欧洲人的频率。

结论

我们得出结论,与其他阿拉伯人和北欧人相比,阿联酋人中最关键的 CCR5 多态性(∆32)的等位基因频率极低。此外,在阿联酋人中还检测到其他 CCR5 多态性的极低等位基因频率。

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