Laforet M, Froelich N, Parissiadis A, Pfeiffer B, Schell A, Faller B, Woehl-Jaegle M L, Cazenave J P, Tongio M M
Laboratoire d'Histocompatibilité Etablissement de Transfusion Sanguine, Strasbourg, France.
Tissue Antigens. 1997 Oct;50(4):347-50. doi: 10.1111/j.1399-0039.1997.tb02885.x.
HLA class I typing performed in parallel by molecular biology and serology has revealed cases where an HLA class I allele was identified whereas the corresponding antigen was not detected on the cell surface. In the present report, we describe four members of a family in whom an HLA-A1 allele identified at the molecular level was typed as A "blank" by lymphocytotoxicity. This serologically blank antigen was undetectable by isoelectric focusing (IEF). Sequencing of the HLA-A01 allele from the promoter region to the eighth exonic region revealed insertion of a "C" nucleotide at the beginning of the fourth exon as compared to the common HLA-A0101 allele. This mutation causes a frame shift, giving rise to an early stop codon in the fourth exon.
通过分子生物学和血清学并行进行的HLA I类分型揭示了一些情况，即鉴定出了HLA I类等位基因，但在细胞表面未检测到相应抗原。在本报告中，我们描述了一个家族的四名成员，在他们身上，通过淋巴细胞毒性在分子水平鉴定出的HLA-A1等位基因被分型为A“空白”。这种血清学上的空白抗原无法通过等电聚焦（IEF）检测到。对从启动子区域到第八个外显子区域的HLA-A01等位基因进行测序发现，与常见的HLA-A0101等位基因相比，在第四个外显子开头插入了一个“C”核苷酸。这种突变导致移码，在第四个外显子中产生一个提前的终止密码子。
