菜单 基因医生

hla-drb1属于hlaⅡ类β链副记录。II类分子是一种异二聚体，由α（DRA）和β链（DRB）组成，两者都锚定在膜上它在免疫系统中起着中心作用，通过提供来自细胞外蛋白质的肽。Ⅱ类分子在抗原提呈细胞（apc:b淋巴细胞、树突状细胞、巨噬细胞）中表达。β链约为26-28 kDa。它由6个外显子编码。外显子1编码先导肽；外显子2和3编码两个胞外结构域；外显子4编码跨膜结构域；外显子5编码细胞质尾部。在dr分子中，β链包含指定肽结合特异性的所有多态性。数以百计的DRB1等位基因已经被描述出来，这些多态性的分型通常是在骨髓和肾移植中进行的drb1的表达水平是其副日志drb3、drb4和drb5的五倍。DRB1存在于所有个体中drb1的等位基因变异与drb3、drb4和drb5基因中的一个或一个都没有关联。相关假基因有4个：DRB2、DRB6、DRB7、DRB8和DRB9[由RefSeq提供，2008年7月]
HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]