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The American Society for Histocompatibility and Immunogenetics HLA common and well‐documented (CWD) catalog, CWD 2.0.0 catalog and European Federation for Immunogenetics (EFI) CWD catalog have been published, which are useful for improving the accuracy of HLA genotyping in laboratories. Here, we studied the Chinese HLA CWD catalog. A total of 812 211 unrelated volunteer donors from the China Marrow...
Four hundred novel human leukocyte antigen (HLA) alleles were identified in Chinese individuals: 100 HLA‐A alleles, 100 HLA‐B alleles, 101 HLA‐C alleles, 28 HLA‐DRB1 alleles and 71 HLA‐DQB1 alleles. Comparing novel alleles with their most homologous allele, we found 72.73% non‐synonymous nucleotide substitutions, 21.13% silent mutations, 3.90% nonsense mutations and 3.25% frameshift mutation. 352...
In this brief communication, we investigate the role of DEFB103 gene copy number variation (CNV) in ankylosing spondylitis (AS) susceptibility. A total of 807 Chinese individuals including 406 AS patients and 401 controls were enrolled. The DEFB103 copy number was measured by two sets of probes to obtain a stable result in a custom‐by‐design Multiplex AccuCopy™ kit (Genesky Biotechnologies Inc., Shanghai,...
Next generation sequencing (NGS)‐based human leukocyte antigen (HLA) typing was used for ultra large‐scale genotyping of registry donors for the China Marrow Donor Program (CMDP). More than 79,000 samples were subjected to HLA genotyping at 4‐digit allelic level without ambiguities for HLA‐A, ‐B, ‐C, DRB1 and DQB1 loci, with throughput up to 2068 samples per lane in a HiSeq flow cell (eight lanes...
Despite the knowledge of many genetic alterations present in breast cancer, the complexity of this disease precludes placing its biology into a simple conceptual framework. Toll‐like receptor 4 (TLR4) plays important roles in regulating innate immunity and may affect the development of cancers. Polymorphisms in TLR4 gene have been shown to be associated with impaired immune responses. Here, we investigated...
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