China Focus: Chinese researchers discover new human genetic variant with clinical promise
Source: Xinhua | 2026-07-20 | Editor:Rachel
A research team from the Zhongshan Hospital (Xiamen), Fudan University, in east China's Fujian Province, recently 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. The complete registration information of this gene is now available in global public genomic databases, while the research 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 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 HLA 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.
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 used nanopore sequencing technology to check 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.
The discovery also holds practical value. A new allele entry increases the chances of finding suitable matches for patients awaiting kidney or bone marrow stem cell transplants, and helps doctors better predict post-operative rejection risks.
It also offers fresh research directions for the prevention and precision treatment of autoimmune diseases such as lupus and rheumatoid arthritis, as well as for new drug development.
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