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突尼斯南部人群 HLA - A、-B、-C、-DR、-DQ 多态性分析及与其他人群的比较。

Analysis of HLA-A, -B, -C, -DR, -DQ polymorphisms in the South Tunisian population and a comparison with other populations.

作者信息

Mahfoudh Nadia, Ayadi Imen, Kamoun Arwa, Ammar Radhia, Mallek Bakhta, Maalej Leila, Hakim Faiza, Gaddour Lilia, Rebai Ahmed, Makni Hafedh

机构信息

Immunology Department, Hospital Hedi, Chaker, Sfax, Tunisia.

出版信息

Ann Hum Biol. 2013 Jan;40(1):41-7. doi: 10.3109/03014460.2012.734334. Epub 2012 Oct 25.

Abstract

BACKGROUND

The Human Leucocyte Antigen (HLA) system is often used as a genetic marker for analysing populations. HLA antigen distribution among the Tunisian population is not well defined because of the lack of a general population study.

AIM

The aim of the present study was to investigate the polymorphism of HLA-A, -B, -C, -DR and -DQ loci in the South Tunisian population.

SUBJECTS AND METHODS

This study has investigated HLA-A, -B, -C, -DR and -DQ polymorphisms in 123 unrelated healthy individuals originating from the south of Tunisia. HLA class I was studied by serology and completed by polymerase chain reaction-sequence specific primer (PCR-SSP). HLA class II was performed using PCR-SSP.

RESULTS

The most common alleles were A-2 (0.2154), B-44 (0.1179), C7 (0.2114), DR4 (0.1626) and DQ2 (0.313). A1-B-8-C7-DR3-DQ2 (2.84%) was the predominant haplotype in this population. Comparisons with data of other worldwide populations based on phylogenetic tree and multidimensional scaling analysis were done. This study suggests that both HLA class I and class II polymorphism specificities demonstrate a high diversity in this South Tunisian population, which reflects ancient and recent admixture with neighbouring populations.

CONCLUSION

The results provide useful information for further studies of Tunisian population evolution, anthropology and for resolving HLA frequencies when searching for HLA-compatible donors in transplantation and for the analysis of disease associations.

摘要

背景

人类白细胞抗原(HLA)系统常被用作分析人群的遗传标记。由于缺乏对一般人群的研究,突尼斯人群中HLA抗原的分布尚不明确。

目的

本研究旨在调查突尼斯南部人群中HLA - A、- B、- C、- DR和 - DQ基因座的多态性。

对象与方法

本研究调查了123名来自突尼斯南部的无亲缘关系健康个体的HLA - A、- B、- C、- DR和 - DQ多态性。通过血清学研究HLA I类,并通过聚合酶链反应 - 序列特异性引物(PCR - SSP)进行补充。使用PCR - SSP进行HLA II类检测。

结果

最常见的等位基因是A - 2(0.2154)、B - 44(0.1179)、C7(0.2114)、DR4(0.1626)和DQ2(0.313)。A1 - B - 8 - C7 - DR3 - DQ2(2.84%)是该人群中的主要单倍型。基于系统发育树和多维尺度分析,与其他全球人群的数据进行了比较。本研究表明,HLA I类和II类多态性特异性在突尼斯南部人群中均表现出高度多样性,这反映了与邻近人群的古代和近期混合情况。

结论

这些结果为进一步研究突尼斯人群的进化、人类学以及在寻找移植中HLA匹配供体时解析HLA频率和分析疾病关联提供了有用信息。

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