辽宁地区HLA-B*51:36的进一步调研分析  

Progressing investigation of HLA-B^(*) 51:36 in Liaoning region

作　　者：陈阳 李剑平[1] CHEN Yang;LI Jianping(Shenyang Central Blood,Shenyang,110044,China)

机构地区：[1]沈阳中心血站(辽宁省血液中心),沈阳110044

出　　处：《临床血液学杂志》2021年第2期118-120,共3页Journal of Clinical Hematology

摘　　要：目的:调查分析HLA-B^(*)51:36在辽宁地区基因频率。方法:用PCR-SSP、SSO和SBT方法对50 000例辽宁健康人群进行HLA-A、B、DR基因分型,统计其中HLA-B^(*)51:36的有关信息,并进行分析说明。使用微量淋巴细胞毒试验测定其中1例HLA-B^(*)51:36样本的血清学Ⅰ类抗原特异性。结果:检出34例HLA-B^(*)51:36,基因频率为0.068%,占B^(*)51位点的0.42%。对其中1例先证者进行家系调查分析其单体型遗传规律为HLA-A^(*)03-B^(*)51:36-DRB1^(*)01,检测其中1例样本血清学结果为B44、B51、B37。结论:B^(*)51-DRB1*01显著的连锁不平衡。DRB1^(*)01可能促使B^(*)51:08更易发生基因位点特异性碱基突变从而形成了B^(*)51:36。抗原特异性出现三联体现象为检测样本特有还是HLA-B^(*)51:36碱基突变影响氨基酸表达产生的位点特异性结果,仍需多个相关样本进一步试验分析原因。Objective: To analyze relevant information on HLA-B^(*)51: 36 which was first found by the Hangzhou Blood Center in 2004. Methods: We performed low-and medium-resolution DNA typing of human leukocyte antigen(HLA)-A, B and DR alleles using polymerase chain reaction/sequence-specific primer or sequence-specific oligonucleotide prode and analyzed correlating information of HLA-B^(*)51: 36. At the same time, we identified the HLA-B^(*)51: 36 phenotype of one sample by the microlymphocytotoxicity test. Results: We detected 34 cases of HLA-B^(*)51: 36 within 50 000 voluntary donors of Liaoning hemopoietic stem cell or platelet from 2004 to 2018. Conclusion: The results showed that HLA-B^(*)51: 36-DR01 expressed strong linkage disequilibrium. However, in Liaoning, HLA-B^(*)51-DR^(*)01 trabant expressed no relationship of linkage. Our study suggested that DRB1^(*)01 may prompt B^(*)51: 08 gene site-specific mutation into gene type B^(*)51: 36. The phenotype of the sample which had the HLA-B^(*)51: 36 carried three HLA-B antigens, B44, B51 and B37. We need more samples to test so that we can analyze the causation of triple HLA-B antigen in the detected sample or the HLA-B^(*)51: 36 allele.

关 键 词：HLA-B^(*)51 连锁不平衡 三联体 

分 类 号：R457.1[医药卫生—治疗学]