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墨西哥人 HLA Ⅰ类和Ⅱ类保守扩展单体型及其片段或块:对混合人群遗传多样性研究的启示。

HLA class I and class II conserved extended haplotypes and their fragments or blocks in Mexicans: implications for the study of genetic diversity in admixed populations.

机构信息

Department of Immunology, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Mexico City, Mexico.

出版信息

PLoS One. 2013 Sep 23;8(9):e74442. doi: 10.1371/journal.pone.0074442. eCollection 2013.

DOI:10.1371/journal.pone.0074442
PMID:24086347
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3781075/
Abstract

Major histocompatibility complex (MHC) genes are highly polymorphic and informative in disease association, transplantation, and population genetics studies with particular importance in the understanding of human population diversity and evolution. The aim of this study was to describe the HLA diversity in Mexican admixed individuals. We studied the polymorphism of MHC class I (HLA-A, -B, -C), and class II (HLA-DRB1, -DQB1) genes using high-resolution sequence based typing (SBT) method and we structured the blocks and conserved extended haplotypes (CEHs) in 234 non-related admixed Mexican individuals (468 haplotypes) by a maximum likelihood method. We found that HLA blocks and CEHs are primarily from Amerindian and Caucasian origin, with smaller participation of African and recent Asian ancestry, demonstrating a great diversity of HLA blocks and CEHs in Mexicans from the central area of Mexico. We also analyzed the degree of admixture in this group using short tandem repeats (STRs) and HLA-B that correlated with the frequency of most probable ancestral HLA-C/-B and -DRB1/-DQB1 blocks and CEHs. Our results contribute to the analysis of the diversity and ancestral contribution of HLA class I and HLA class II alleles and haplotypes of Mexican admixed individuals from Mexico City. This work will help as a reference to improve future studies in Mexicans regarding allotransplantation, immune responses and disease associations.

摘要

主要组织相容性复合体 (MHC) 基因在疾病关联、移植和群体遗传学研究中高度多态且信息丰富,特别是在理解人类群体多样性和进化方面具有特别重要的意义。本研究旨在描述墨西哥混合人群中的 HLA 多样性。我们使用高分辨率基于序列的分型 (SBT) 方法研究了 MHC 类 I(HLA-A、-B、-C)和类 II(HLA-DRB1、-DQB1)基因的多态性,并通过最大似然法对 234 名非相关混合墨西哥个体(468 个单倍型)中的基因块和保守扩展单倍型 (CEH) 进行了结构分析。我们发现 HLA 基因块和 CEH 主要来源于美洲印第安人和高加索人,非洲和最近的亚洲血统参与较少,表明来自墨西哥中部的墨西哥人具有丰富多样的 HLA 基因块和 CEH。我们还使用短串联重复序列 (STR) 和 HLA-B 分析了该组的混合程度,这与最可能的祖先 HLA-C/-B 和 -DRB1/-DQB1 基因块和 CEH 的频率相关。我们的研究结果有助于分析墨西哥城混合人群中 HLA 类 I 和 HLA 类 II 等位基因和单倍型的多样性和祖先贡献。这项工作将有助于作为参考,为未来关于同种异体移植、免疫反应和疾病关联的墨西哥人研究提供参考。

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