Shiina T, Inoko H, Kulski J K
Department of Molecular Life Science, Division of Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, Shimokasuya, Isehara, Japan.
Tissue Antigens. 2004 Dec;64(6):631-49. doi: 10.1111/j.1399-0039.2004.00327.x.
The human major histocompatibility (MHC) genomic region at chromosomal position 6p21 encodes the six classical transplantation HLA genes and many other genes that have important roles in the regulation of the immune system as well as in some fundamental cellular processes. This small segment of the human genome has been associated with more than 100 diseases, including common diseases--such as diabetes, rheumatoid arthritis, psoriasis, asthma and various autoimmune disorders. The MHC 3.6 Mb genomic sequence was first reported in 1999 with the annotation of 224 gene loci. The locus and allelic information of the MHC continue to be updated by identifying newly mapped expressed genes and pseudogenes based on comparative genomics, SNP analysis and cDNA projects. Since 1999, new innovations in bioinformatics and gene-specific functional databases and studies on the MHC genes have resulted in numerous changes to gene names and better ways to update and link the MHC gene symbols, names and sequences together with function, variation and disease associations. In this study, we present a brief overview of the MHC genomic structure and the recent information that we have gathered on the MHC gene loci via LocusLink at the National Centre for Biological Information (http://www.ncbi.nih.gov/.) and the MHC genes' association with various diseases taken from publications and records in public databases, such as the Online Mendelian Inheritance in Man and the Genetic Association Database.
位于染色体6p21位置的人类主要组织相容性复合体（MHC）基因组区域编码六个经典的移植HLA基因以及许多其他基因，这些基因在免疫系统调节以及一些基本细胞过程中发挥着重要作用。人类基因组的这一小段区域已与100多种疾病相关联，包括常见疾病，如糖尿病、类风湿性关节炎、银屑病、哮喘和各种自身免疫性疾病。MHC的3.6 Mb基因组序列于1999年首次报道，标注了224个基因位点。通过基于比较基因组学、SNP分析和cDNA项目鉴定新定位的表达基因和假基因，MHC的基因座和等位基因信息不断更新。自1999年以来，生物信息学和基因特异性功能数据库的新进展以及对MHC基因的研究导致了基因名称的大量变化，以及更新和将MHC基因符号、名称和序列与功能、变异和疾病关联联系起来的更好方法。在本研究中，我们简要概述了MHC基因组结构以及我们通过美国国家生物技术信息中心（http://www.ncbi.nih.gov/）的LocusLink收集到的关于MHC基因座的最新信息，以及从诸如《人类孟德尔遗传在线》和《遗传关联数据库》等公共数据库中的出版物和记录获取的MHC基因与各种疾病的关联。
