Crew V Karamatic, Poole J, Banks J, Reed M, Daniels G
Bristol Institute for Transfusion Sciences and International Blood Group Reference Laboratory, National Blood Service, Bristol, UK.
Vox Sang. 2004 Aug;87(2):109-13. doi: 10.1111/j.1423-0410.2004.00542.x.
The Lutheran blood group system comprises 18 antigens numbered LU1 to LU20, with two numbers obsolete. Thirteen antigens are of high frequency.
Serological tests were performed by conventional methods. The monoclonal antibody-specific immobilization of erythrocyte antigens (MAIEA) assay was carried out with monoclonal antibodies to Lutheran glycoprotein. All exons of the LU gene were amplified by the polymerase chain reaction (PCR) and directly sequenced from genomic DNA.
A patient was found to have an antibody to a high-frequency red cell antigen during her second pregnancy. The antibody was shown to be Lutheran-related and was distinguished from all reported Lutheran antibodies. MAIEA suggested the antibody was defining a novel epitope in domain 1 of the Lu-glycoprotein. Sequencing of the LU gene revealed a new homozygous single-point mutation, C282G, in exon 3, encoding an Asp94Glu change in the first domain of the Lu-glycoprotein.
The antibody detected a new high-frequency Lutheran antigen, numbered LU21, that appears to result from an Asp94Glu substitution in the first, N-terminal domain of the Lu-glycoprotein.
路德血型系统包含18种抗原,编号为LU1至LU20,其中两个编号已过时。13种抗原为高频抗原。
采用常规方法进行血清学检测。用抗路德糖蛋白的单克隆抗体进行红细胞抗原单克隆抗体特异性固定(MAIEA)分析。通过聚合酶链反应(PCR)扩增LU基因的所有外显子,并直接从基因组DNA进行测序。
一名患者在第二次妊娠期间被发现有一种针对高频红细胞抗原的抗体。该抗体被证明与路德血型相关,且与所有已报道的路德血型抗体不同。MAIEA分析表明该抗体在路德糖蛋白的第1结构域中定义了一个新的表位。LU基因测序显示外显子3中有一个新的纯合单点突变C282G,导致路德糖蛋白第1结构域中的天冬氨酸94变为谷氨酸。
该抗体检测到一种新的高频路德血型抗原,编号为LU21,它似乎是由路德糖蛋白第1个N末端结构域中的天冬氨酸94被谷氨酸取代所致。