Faé I, Gleissner B, Kriks D, Leitner D, Fischer G F
Department of Blood Group Serology, University of Vienna, Austria.
Tissue Antigens. 2000 Sep;56(3):276-8. doi: 10.1034/j.1399-0039.2000.560311.x.
We describe a novel HLA-A allele, HLA-A6812. HLA-typing of a patient was performed by serology and by DNA-based analyses. Cloning and sequencing of exons 2 and 3 revealed that the genotype consisted of a common HLA-A0101 allele and the novel HLA-A6812 allele. HLA6812 is identical to HLA-A*68012 except for a single non-synonymous nucleotide substitution leading to an exchange of a threonine to an isoleucine residue at position 142 of the HLA-class I alpha chain. The allele was also found in the patient's mother. The novel HLA-A68 molecule is recognised by some but not all of our HLA-A28-specific sera. These results confirm that position 142 is important for the serological properties of the HLA-A molecule.
我们描述了一种新的HLA - A等位基因,即HLA - A6812。通过血清学和基于DNA的分析对一名患者进行了HLA分型。外显子2和3的克隆及测序显示,该基因型由一个常见的HLA - A0101等位基因和新的HLA - A6812等位基因组成。HLA6812与HLA - A*68012相同,只是有一个非同义核苷酸替换,导致HLA - I类α链第142位的苏氨酸残基被异亮氨酸残基取代。在患者的母亲中也发现了该等位基因。我们的一些但并非所有HLA - A28特异性血清能够识别这种新的HLA - A68分子。这些结果证实,第142位对于HLA - A分子的血清学特性很重要。