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人类探险结果。II. 使用聚合酶链反应/序列特异性寡核苷酸探针技术分析来自哥伦比亚的三个非裔美国人种群中的人类白细胞抗原II类等位基因:鉴定一个新的DQB1*02(*0203)等位基因。

Results of Expedicion Humana. II. Analysis of HLA class II alleles in three African American populations from Colombia using the PCR/SSOP: identification of a novel DQB1*02 (*0203) allele.

作者信息

Trachtenberg E A, Keyeux G, Bernal J, Noble J A, Erlich H A

机构信息

Department of Human Genetics, Roche Molecular Systems, Alameda, California, USA.

出版信息

Tissue Antigens. 1996 Sep;48(3):192-8. doi: 10.1111/j.1399-0039.1996.tb02628.x.

Abstract

PCR/SSOP typing methods were used to analyze the HLA Class II DRB1, DQA1, DQB1 and DPB1 loci of samples from three African American populations of Colombia. Forty samples from the Cauca (Pacific), and twenty samples each from the Choco (North Pacific Coast) and the Providencia (Caribbean island) populations, were collected and the Class II loci analyzed under the auspices of the Expedicion Humana. Despite the limited number of samples analyzed, the African Colombian populations exhibit a very high degree of class II polymorphism. A great diversity of DRB1 alleles was found, with representatives from all serological classes, including 19 DRB1 alleles in the Providencia, 16 in the Cauca and 14 in the Choco groups. In addition, a novel DQB102 allele (0203) was found in two individuals from the Cauca population of the Pacific Coast. The sequence of the DQB10203 allele, associated with DR3, differs from DQB10201 by only one nucleotide substitution (C-->A) in the second position of codon 57, resulting in an Ala to Asp change. The addition of DQB1*0203 brings the total number of DQB1 alleles identified to date to 26. HLA class II diversity is much greater in these African Colombian populations than that seen in nearby Amerindian populations. Analysis of regional Colombian African American HLA population genetics is discussed with respect to the Colombian Amerindian HLA genetics described in an accompanying paper.

摘要

采用聚合酶链反应/序列特异性寡核苷酸探针(PCR/SSOP)分型方法,对来自哥伦比亚三个非裔美国人种群的样本进行人类白细胞抗原(HLA)Ⅱ类DRB1、DQA1、DQB1和DPB1基因座分析。在“人类探险”活动的支持下,收集了来自考卡(太平洋地区)的40份样本,以及来自乔科(北太平洋海岸)和普罗维登西亚(加勒比岛屿)种群各20份样本,并对Ⅱ类基因座进行分析。尽管分析的样本数量有限,但哥伦比亚非裔种群显示出非常高的Ⅱ类多态性。发现了多种DRB1等位基因,涵盖所有血清学类型,其中普罗维登西亚种群有19个DRB1等位基因,考卡种群有16个,乔科种群有14个。此外,在太平洋海岸考卡种群的两名个体中发现了一个新的DQB102等位基因(0203)。与DR3相关的DQB10203等位基因序列,与DQB10201仅在密码子57第二位有一个核苷酸替换(C→A),导致丙氨酸变为天冬氨酸。DQB1*0203的加入使迄今确定的DQB1等位基因总数达到26个。这些哥伦比亚非裔种群中的HLAⅡ类多样性,比附近美洲印第安人群体中的要大得多。结合随附论文中描述的哥伦比亚美洲印第安人HLA遗传学,对哥伦比亚非裔美国人HLA群体遗传学的区域分析进行了讨论。

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