Voorter C E, Lardy N M, van den Berg-Loonen E M
Tissue Typing Laboratory, University Hospital Maastricht, The Netherlands.
Tissue Antigens. 2000 Jan;55(1):37-43. doi: 10.1034/j.1399-0039.2000.550106.x.
The DRB4 gene encoding the DR53 antigen is present in DRB104-, DRB107- and DRB109-positive individuals. Eight allelic variants of DRB4 have been recognized, 5 resulting in an expressed DR53 antigen and 3 belonging to the null alleles. So far the DRB40103102N null allele had been found exclusively in individuals carrying the haplotype DR7,-DQ9. High-resolution typing of HLA class II by polymerase chain reaction using sequence-specific primers (PCR-SSP) and/or sequence-based typing of kidney patients and their families revealed the presence of the DRB40103102N null allele segregating with DRB104 and DQB103 in 4 different families. Three different haplotypes on which the null allele was located, were recognized by family studies: DRB10401, DQB10301; DRB10402, DQB10302 and DRB10404, DQB1*0302. Determination of the DR53 specificity of antisera reacting with DR53-positive individuals has always been difficult due to the simultaneous presence of DR4, 7 or 9. Identification of DR4-positive DR53-negative individuals as described here, provided the serological reactions with DR53-antisera and revealed the antibody specificities in the antisera used.
编码DR53抗原的DRB4基因存在于DRB104、DRB107和DRB109阳性个体中。已识别出DRB4的8个等位基因变体,其中5个导致表达DR53抗原,3个属于无效等位基因。到目前为止,DRB40103102N无效等位基因仅在携带单倍型DR7、-DQ9的个体中发现。通过使用序列特异性引物的聚合酶链反应(PCR-SSP)对肾患者及其家属进行HLA II类高分辨率分型和/或基于序列的分型,发现DRB40103102N无效等位基因在4个不同家庭中与DRB104和DQB103共分离。通过家系研究识别出无效等位基因所在的3种不同单倍型:DRB10401、DQB10301;DRB10402、DQB10302和DRB10404、DQB1*0302。由于同时存在DR4、7或9,确定与DR53阳性个体反应的抗血清的DR53特异性一直很困难。此处所述的DR4阳性DR53阴性个体的鉴定提供了与DR53抗血清的血清学反应,并揭示了所用抗血清中的抗体特异性。