Molecular, serological and population studies on a novel HLA-B allele HLA-B*5002
Molecular, serological and population studies on a novel HLA-B allele HLA-B*5002
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DOI：
10.1111/j.1399-0039.1998.tb03012.x
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发表时间：
1998-06-01
期刊：
影响因子：
--
通讯作者：
Thomas, M
中科院分区：
文献类型：
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作者：
Darke, C;Guttridge, MG;Thomas, M
通过外显子2和3的核苷酸测序，发现了一个新的HLA-B等位基因（B*5002），该等位基因在骨髓组供者的血清学和PCR-SSP HLA-A和B表型之间存在差异。39份HLA-B12/B21交叉反应抗血清的滴定研究表明，HLA-B*5002的血清学特异性为HLA-B45。对12411名献血者中287名血清学上确定的hla - b45阳性受试者进行PCR-SSP检测，以及4342名PCR-SSP型受试者的HLA-B*45和B*5002频率数据显示，4.53%的血清学上确定的hla - b45阳性受试者携带HLA-B*5002，而非HLA-B*4501。HLA-B*5002表型频率为0.08954%；基因频率为0.00045 （n = 16,753）。73.3%的个体B*5002与DRB1*0406和DQB1*0402存在单倍型，其中54.6%的个体a *2301存在单倍型。B*5002、DRB1*0406、DQB1*0402单倍型占DRB1*04和DQB1*04单倍型的52.4%，占DRB1*0406和DQB1*0402单倍型的78.6%。
A novel HLA-B allele (B*5002), detected as a discrepancy between serological and PCR-SSP HLA-A and B phenotyping of bone marrow panel donors, was identified by nucleotide sequencing of exons 2 and 3. Titration studies on 39 HLA-B12/B21 cross-reactive antisera showed that the serological specificity of HLA-B*5002 was HLA-B45. PCR-SSP testing of 287 serologically defined HLA-B45-positive subjects from a panel of 12,411 donors, together with HLA-B*45 and B*5002 frequency data on 4,342 PCR-SSP typed subjects, indicated that 4.53% of serologically defined HLA-B45-positive subjects possess HLA-B*5002 and not HLA-B*4501. The phenotype frequency of HLA-B*5002 was 0.08954%; gene frequency was 0.00045 (n = 16,753). In 73.3% of instances B*5002 appeared to be present on a haplotype with DRB1*0406 and DQB1*0402, 54.6% of which possessed A*2301. The B*5002, DRB1*0406, DQB1*0402 haplotype represents 52.4% of all haplotypes with DRB1*04 and DQB1*04 and 78.6% of haplotypes possessing DRB1*0406 and DQB1*0402.