Corell A, Cox S T, Soteriou B, Ramon D, Madrigal J A, Marsh S G E
Anthony Nolan Research Institute, The Royal Free Hospital, London, UK.
Tissue Antigens. 2002 Jan;59(1):66-9. doi: 10.1034/j.1399-0039.2002.590116.x.
Sequencing studies of HLA class II molecules have been focused almost exclusively on the highly polymorphic exon 2. In this study the complete cDNA sequence of four alleles of the DR14 lineage (DR52 group) are reported for the first time. The HLA-DRB11402 and 1403 sequences were shown to be identical to the previously determined DRB113011 sequence, also of the DR52 group, in exons 1, 3, 4, 5 and 6. HLA-DRB114011 and 1404 were identical to DRB113011 in exons 1, 4, 5 and 6 sequences while they showed specific features within their exon 3 sequence. Both alleles showed a synonymous substitution at the third base of codon 114. However, DRB1*14011 also has a non-synonymous substitution at the first base of codon 112 which results in a histidine to tyrosine substitution. This is a novel substitution as Histidine 112 is conserved in all known HLA class II B genes.
对HLA II类分子的测序研究几乎完全集中在高度多态的第2外显子上。在本研究中,首次报道了DR14谱系(DR52组)四个等位基因的完整cDNA序列。HLA-DRB11402和1403序列在第1、3、4、5和6外显子中与先前确定的同样属于DR52组的DRB113011序列相同。HLA-DRB114011和1404在第1、4、5和6外显子序列中与DRB113011相同,而它们在第3外显子序列中表现出特定特征。两个等位基因在密码子114的第三个碱基处都有一个同义替换。然而,DRB1*14011在密码子112的第一个碱基处也有一个非同义替换,导致组氨酸被酪氨酸替换。这是一个新的替换,因为在所有已知的HLA II类B基因中,组氨酸112是保守的。