Chinese Researchers Discover Novel HLA Allele HLA-DQB1*03:03:38 with Clinical Promise
核心洞察
A research team from Zhongshan Hospital (Xiamen), Fudan University (搜索), has identified a novel HLA allele officially designated HLA-DQB1*03:03:38 (搜索) by the WHO.
The discovery was made during routine blood testing of a healthy woman and confirmed using nanopore sequencing technology with cross-referencing against global gene repositories.
The new allele enriches the global HLA repertoire, now exceeding 45,000 identified alleles, and provides a new reference for immunology, clinical safety, and precision medicine research.
A research team from Zhongshan Hospital (Xiamen), Fudan University (搜索), in east China's Fujian Province, has identified a novel human leukocyte antigen (HLA) allele, a discovery that holds significant value for both clinical therapeutics and fundamental biomedical research. The World Health Organization (WHO) has assigned the novel allele the official designation HLA-DQB1*03:03:38 (搜索), and the complete registration information is now available in global public genomic databases. The findings have been published in the international journal HLA.
Industry experts noted that this discovery enriches the global repertoire of HLA genes and provides a new reference point for research in immunology, clinical safety, and precision medicine.
The HLA System and the Significance of Novel Alleles
The HLA system is a cluster of genes located on chromosome 6 and represents one of the most polymorphic and structurally complex genetic systems in the human body, often described as a unique "genetic ID card." The system comprises dozens of loci, each with multiple alleles ranging from a few to over ten thousand. The global total of identified HLA alleles has now exceeded 45,000, underscoring the immense diversity of this genomic region.
Discovery and Validation Process
The novel allele was detected during routine blood testing of a healthy woman whose HLA antibody screening returned positive. With her consent, the team further analyzed her HLA genes and found that the sequenced results deviated from all known alleles, according to Lyu Xiaoying, a member of the research team.
To rule out errors, the team employed nanopore sequencing technology to verify the basic genetic code through multiple rounds of testing. After cross-referencing with global gene repositories, they confirmed that the allele had never been documented worldwide.
Clinical and Translational Implications
The discovery carries practical clinical value. A new allele entry increases the chances of finding suitable matches for patients awaiting kidney or bone marrow stem cell transplants, and helps clinicians better predict post-operative rejection risks. Beyond transplantation medicine, the finding also offers fresh research directions for the prevention and precision treatment of autoimmune diseases such as lupus (搜索) and rheumatoid arthritis (搜索), as well as for new drug development.