Allele and haplotype frequencies of human leukocyte antigen-A, -B, -C,-DRB1, and -DQB1 in Chinese patients with hematological diseases
  
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KeyWord:human leukocyte antigen (HLA), allele frequencies, haplotype frequencies, hematopoietic stem cell transplantation
                             
AuthorInstitution
Yanjun Jia Department of HLA, Beijing Red Cross Blood Center, Beijing 100088, China.
Wei Li Department of HLA, Beijing Red Cross Blood Center, Beijing 100088, China.
Lijun Wang Department of HLA, Beijing Red Cross Blood Center, Beijing 100088, China.
Na Liu Department of HLA, Beijing Red Cross Blood Center, Beijing 100088, China.
Dongmei Wang Department of HLA, Beijing Red Cross Blood Center, Beijing 100088, China.
Dongmei Li Department of HLA, Beijing Red Cross Blood Center, Beijing 100088, China.
Yuanyuan Jing Department of HLA, Beijing Red Cross Blood Center, Beijing 100088, China.
Jie Wang Department of HLA, Beijing Red Cross Blood Center, Beijing 100088, China.
Zhongmei Wang Department of HLA, Beijing Red Cross Blood Center, Beijing 100088, China.
Xiaoyan Shan Department of HLA, Beijing Red Cross Blood Center, Beijing 100088, China.
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Abstract:
      The human leukocyte antigen (HLA) system plays a central role in the immune response to pathogens, as well as in organ and allogenic hematopoietic stem cell transplantation (HSCT). Finding a five-locus (i.e., HLA-A, -B, -C, -DRB1, and -DQB1) matched unrelated donor for a patient awaiting HSCT is a major clinical challenge, due to the lack of HLA-identical sibling donors and the high polymorphism of HLA. To date, most studies providing HLA allele frequencies (AF) and haplotype frequencies (HF) in Chinese populations have focused on donors instead of the recipients and have provided data for three loci (HLA-A, -B, and -DR); however, data from five-locus HLA typing in a large sample of patients, especially those with hematological diseases, remains unavailable. Therefore, this study was designed to determine HLA AF and two-, three-, four- and five-locus HF in a large cohort of Chinese Han patients with hematological diseases. The AF and the HF were determined using high-resolution HLA typing data from 2,878 patients. The total number of HLA-A, -B, -C, -DRB1, and -DQB1 alleles was determined to be 48, 92, 49, 52, and 24, respectively. Hardy-Weinberg equilibrium (HWE) analyses indicated significant deviations from HWE for HLA-A, -C, -DRB1, and -DQB1 AF, but not for HLA-B locus. The three most common alleles at each locus were A*11:01, A*24:02, A*02:01; B*46:01, B*40:01, B*13:02; C*01:02, C*07:02, C*06:02; DRB1*09:01, DRB1*15:01, DRB1*07:01; DQB1*03:01, DQB1*03:03, and DQB1*06:01. Our data may help to determine whether the current bone marrow registry contains sufficient diversity to meet the demand.
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