Ohm-Laursen Line, Larsen Stine Rosenkilde, Barington Torben
Department of Clinical Immunology, Odense University Hospital, 5000, Odense C, Denmark.
Immunogenetics. 2005 Oct;57(9):621-7. doi: 10.1007/s00251-005-0035-8. Epub 2005 Oct 18.
More than 100 variable (V), 27 diversity (D), and six joining (J) genes are encoded in the human heavy chain locus, and many of these genes exists in different allelic forms. The number of genes and the allelic differences help to create diversity in the immunoglobulin receptors, a key feature of the adaptive immune system. We here report the identification of two novel and seemingly functional alleles of human heavy chain genes. The variable IGHV3-2304 allele is found with an allele frequency of 0.21 amongst Danish Caucasians, whereas the novel joining IGHJ604 allele is rare (allele frequency 0.02). We also report the full sequence of IGHV3-h. The gene exists in two allelic forms but is only found in 58% of the Danish Caucasians studied. The methionine translation initiation codon is mutated, ATG-->AAG, and we therefore propose that the gene is a pseudogene incapable of being translated.
人类重链基因座中编码了100多个可变（V）基因、27个多样性（D）基因和6个连接（J）基因，其中许多基因以不同的等位基因形式存在。基因数量和等位基因差异有助于在免疫球蛋白受体中产生多样性，这是适应性免疫系统的一个关键特征。我们在此报告了人类重链基因的两个新的且看似有功能的等位基因的鉴定。可变IGHV3 - 2304等位基因在丹麦白种人中的等位基因频率为0.21，而新的连接IGHJ604等位基因则很罕见（等位基因频率为0.02）。我们还报告了IGHV3 - h的完整序列。该基因存在两种等位基因形式，但在所研究的丹麦白种人中仅58%能检测到。甲硫氨酸翻译起始密码子发生了突变，ATG→AAG，因此我们认为该基因是一个无法翻译的假基因。
