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HLA-A、-B、-C、-DQB1、-DRB1、3、4、5 等位基因和单体型频率在哥斯达黎加中央山谷人群中的分布及其与世界其他人群的关系。

HLA-A, -B, -C, -DQB1, and -DRB1,3,4,5 allele and haplotype frequencies in the Costa Rica Central Valley Population and its relationship to worldwide populations.

机构信息

Centro de Investigaciones en Hematología y Trastornos Afines (CIHATA), Hospital San Juan de Dios, San José, Costa Rica.

出版信息

Hum Immunol. 2011 Jan;72(1):80-6. doi: 10.1016/j.humimm.2010.10.005. Epub 2010 Oct 28.

DOI:10.1016/j.humimm.2010.10.005
PMID:20937338
Abstract

The human leukocyte antigen (HLA) system is the most polymorphic in humans. Its allele, genotype, and haplotype frequencies vary significantly among different populations. Molecular typing data on HLA are necessary for the development of stem cell donor registries, cord blood banks, HLA-disease association studies, and anthropology studies. The Costa Rica Central Valley Population (CCVP) is the major population in this country. No previous study has characterized HLA frequencies in this population. Allele group and haplotype frequencies of HLA genes in the CCVP were determined by means of molecular typing in a sample of 130 unrelated blood donors from one of the country's major hospitals. A comparison between these frequencies and those of 126 populations worldwide was also carried out. A minimum variance dendrogram based on squared Euclidean distances was constructed to assess the relationship between the CCVP sample and populations from all over the world. Allele group and haplotype frequencies observed in this study are consistent with a profile of a dynamic and diverse population, with a hybrid ethnic origin, predominantly Caucasian-Amerindian. Results showed that populations genetically closest to the CCVP are a Mestizo urban population from Venezuela, and another one from Guadalajara, Mexico.

摘要

人类白细胞抗原(HLA)系统是人类中多态性最高的。其等位基因、基因型和单倍型频率在不同人群中差异显著。HLA 的分子分型数据对于干细胞供者登记处、脐带血库、HLA 疾病关联研究和人类学研究的发展是必要的。哥斯达黎加中央山谷人群(CCVP)是该国的主要人群。以前没有研究描述过该人群中的 HLA 频率。通过对来自该国一家主要医院的 130 名无关献血者样本进行分子分型,确定了 CCVP 中 HLA 基因的等位基因组和单倍型频率。还对这些频率与全球 126 个人群的频率进行了比较。基于平方欧式距离的最小方差 dendrogram 被构建来评估 CCVP 样本与来自世界各地的人群之间的关系。本研究中观察到的等位基因组和单倍型频率与具有混合种族起源、以白人和美洲印第安人为主的动态和多样化人口特征一致。结果表明,与 CCVP 人群遗传上最接近的是来自委内瑞拉的一个混血城市人口,以及来自墨西哥瓜达拉哈拉的另一个人口。

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