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RANTES基因In1.1C等位基因多态性在13个中国民族群体中的研究

RANTES In1.1C allele polymorphisms in 13 Chinese ethnic populations.

作者信息

Qian Yuan, Sun Hao, Chu Jia-you

机构信息

Institute of Medical Biology, Chinese Academy of Medical Science & Peking Union Medical College, Kunming 650118, China.

出版信息

Chin Med J (Engl). 2009 May 20;122(10):1143-6.

Abstract

BACKGROUND

The In1.1C single nucleotide polymorphism (SNP) allele results in reduced RANTES transcription, which is associated with increased frequency of HIV-1 infection, and rapid progression to AIDS among HIV-1-infected individuals. This study aimed to study the mutant frequency and polymorphism of RANTES in Chinese populations.

METHODS

The genotypes of RANTES In1.1C were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) with the digestion of restriction endonuclease Mbo II.

RESULTS

Of the 617 individuals, 290 (47%) were carriers of the RANTES In1.1C allele, 52 of whom were homozygotes, whereas 238 were heterozygotes. The frequency of the RANTES In1.1C allele in those tested individuals was 0.2840. The frequencies of In1.1C allele varied from 0.07 - 0.27 in most of the populations in South-west China except for the two Lisu populations, while the frequencies of In1.1C spans from 0.35 to 0.45 in North-west China. The prevalence of the allele varied substantially between the South-west groups and North-west groups (chi(2) = 7.838, P = 0.006).

CONCLUSIONS

The prevalence of the RANTES In1.1C allele varies substantially between the South-west groups and North-west groups. There is no significant difference between the groups with different languages, which suggests that language relationship is not consistent with the genetic relationship. These results have important implications for the design, assessment, and implementation of HIV-1 vaccines.

摘要

背景

In1.1C单核苷酸多态性(SNP)等位基因导致调节激活正常T细胞表达和分泌的趋化因子(RANTES)转录减少,这与HIV-1感染频率增加以及HIV-1感染者中快速进展至艾滋病相关。本研究旨在研究中国人群中RANTES的突变频率和多态性。

方法

采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,用限制性内切酶Mbo II消化来确定RANTES In1.1C的基因型。

结果

在617名个体中,290名(47%)为RANTES In1.1C等位基因携带者,其中52名是纯合子,238名是杂合子。受试个体中RANTES In1.1C等位基因的频率为0.2840。除两个傈僳族人群外,中国西南部大多数人群中In1.1C等位基因的频率在0.07至0.27之间,而在中国西北部,In1.1C等位基因的频率在0.35至0.45之间。该等位基因的患病率在西南部人群和西北部人群之间有很大差异(χ² = 7.838, P = 0.006)。

结论

RANTES In1.1C等位基因的患病率在西南部人群和西北部人群之间有很大差异。不同语言群体之间没有显著差异,这表明语言关系与遗传关系不一致。这些结果对HIV-1疫苗的设计、评估和实施具有重要意义。

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