美国四个主要人群中的DRB1*14多样性及DRB3关联

DRB1*14 diversity and DRB3 associations in four major population groups in the United States.

作者信息

Gans C P, Tang T F, Slack R, Ng J, Hartzman R J, Hurley C K

机构信息

Georgetown University Medical Center, Washington, DC 20057, USA.

出版信息

Tissue Antigens. 2002 May;59(5):364-9. doi: 10.1034/j.1399-0039.2002.590502.x.

DOI:10.1034/j.1399-0039.2002.590502.x

PMID:12144619

Abstract

At least 59 DRB114 positive individuals from each of four U.S. population groups, Caucasoids, African Americans, Asians/Pacific Islanders, and Hispanics, were randomly selected from a database of 82,979 individuals. DRB114 alleles were identified by DNA sequence analysis using intron-specific primers to obtain complete exon 2 sequences. Only 23% of the known DRB114 alleles were detected. DRB114011 was the predominant DRB114 allele in three populations while Hispanics carried DRB11402 and DRB11406 more frequently. Asians/Pacific Islanders were the most diversified carrying seven alleles. DRB30101, DRB302021 and DRB30210 were detected in a subset of individuals typed for this locus and 15 DRB1-DRB3 haplotypes were defined. This study completes the exon 2 sequences of previously identified alleles, DRB11405-1408, including the identification of two silent codon 90 variants of DRB11407. In addition, two new DRB114 alleles, DRB11441 and DRB11442, are described.

摘要

从82979人的数据库中，随机选取了美国四个种族群体（白种人、非裔美国人、亚裔/太平洋岛民和西班牙裔）中各至少59名DRB114阳性个体。使用内含子特异性引物通过DNA序列分析鉴定DRB114等位基因，以获得完整的外显子2序列。仅检测到23%的已知DRB114等位基因。DRB114011是三个人群中主要的DRB114等位基因，而西班牙裔人群中DRB11402和DRB11406的携带频率更高。亚裔/太平洋岛民携带的等位基因最多样化，有七个。在该位点分型的一部分个体中检测到DRB30101、DRB302021和DRB30210，并定义了15种DRB1-DRB3单倍型。本研究完成了先前鉴定的等位基因DRB11405-1408的外显子2序列，包括鉴定出DRB11407的两个沉默密码子90变体。此外，还描述了两个新的DRB114等位基因DRB11441和DRB11442。