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探讨 HLA Ⅰ类(A、B、C)和 HLA Ⅱ类(DRB1、DQA1、DQB1)等位基因和单体型在探索突尼斯中部人群种族起源中的作用。

Contribution of HLA class I (A, B, C) and HLA class II (DRB1, DQA1, DQB1) alleles and haplotypes in exploring ethnic origin of central Tunisians.

机构信息

Hematology Laboratory, Sahloul University Hospital, Sousse, Tunisia.

Faculty of Pharmacy, University of Monastir, Monastir, Tunisia.

出版信息

BMC Med Genomics. 2024 Feb 29;17(1):65. doi: 10.1186/s12920-024-01821-x.

Abstract

BACKGROUND

Estimation of HLA (Human leukocyte Antigen) alleles' frequencies in populations is essential to explore their ethnic origin. Anthropologic studies of central Tunisian population were rarely reported. Then, in this work, we aimed to explore the origin of central Tunisian population using HLA alleles and haplotypes frequencies.

METHODS

HLA class I (A, B, C) and HLA class II (DRB1, DQA1, DQB1) loci genotyping of 272 healthy unrelated organ donors was performed by Polymerase Chain Reaction-Sequence Specific Oligonucleotide (PCR-SSO). We compared central Tunisians with other populations (Arabs, Berbers, Mediterraneans, Europeans, Africans, etc.) using alleles and haplotypes frequencies, genetic distances, Neighbour-Joining dendrogram and correspondence analysis.

RESULTS

Among the 19 HLA A alleles, the 26 HLA B alleles, the 13 HLA C alleles, the 15 HLA DRB1 alleles, the 6 HLA DQA1 alleles and the 5 HLA DQB1 alleles identified in the studied population, HLA A02 (22.8%), HLA B50 (13.1%), HLA C06 (21.8%), HLA DRB107 (17.8%), HLA DQA101 (32.1%) and HLA DQB103 (31.6%) were the most frequent alleles. The extended haplotypes HLA A02-B50-C06-DRB107-DQA102-DQB102 (1.97%) was the most frequent HLA six-loci haplotype.

CONCLUSION

Central Tunisians were very close to other Tunisian populations, to Iberians and North Africans. They were rather distant from sub-Saharan populations and eastern Mediterraneans especially Arabs although the strong cultural and religious impact of Arabs in this population.

摘要

背景

估计人群中人类白细胞抗原 (HLA) 等位基因的频率对于探索其种族起源至关重要。关于突尼斯中部人群的人类学研究很少有报道。因此,在这项工作中,我们旨在通过 HLA 等位基因和单倍型频率来探索突尼斯中部人群的起源。

方法

对 272 名健康无关的器官捐献者进行 HLA Ⅰ类(A、B、C)和 HLA Ⅱ类(DRB1、DQA1、DQB1)基因座的聚合酶链反应-序列特异性寡核苷酸 (PCR-SSO) 分型。我们通过等位基因和单倍型频率、遗传距离、邻接法聚类树和对应分析,将突尼斯中部人群与其他人群(阿拉伯人、柏柏尔人、地中海人、欧洲人、非洲人等)进行比较。

结果

在所研究的人群中,确定了 19 个 HLA A 等位基因、26 个 HLA B 等位基因、13 个 HLA C 等位基因、15 个 HLA DRB1 等位基因、6 个 HLA DQA1 等位基因和 5 个 HLA DQB1 等位基因,其中 HLA A02(22.8%)、HLA B50(13.1%)、HLA C06(21.8%)、HLA DRB107(17.8%)、HLA DQA101(32.1%)和 HLA DQB103(31.6%)是最常见的等位基因。扩展的单倍型 HLA A02-B50-C06-DRB107-DQA102-DQB102(1.97%)是最常见的 HLA 六基因座单倍型。

结论

突尼斯中部人群与其他突尼斯人群、伊比利亚人和北非人群非常接近。与撒哈拉以南人群和东地中海人群,尤其是阿拉伯人群相距甚远,尽管阿拉伯人对该人群有强烈的文化和宗教影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/368a/10903062/582cc249dfba/12920_2024_1821_Fig1_HTML.jpg

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