Chinese Researchers Discover New Human Allele on Chromosome 6
Chinese researchers at Fudan University Zhongshan Hospital Xiamen Branch have discovered a novel human HLA (Human Leukocyte Antigen) allele on chromosome 6, designated HLA-DQB1*03:03:38 by the World Health Organization. The finding, published in the international peer-reviewed journal HLA, adds a new entry to the global human genetic database and carries potential implications for organ transplantation, autoimmune disease research, and precision medicine.
The discovery was made by a team led by Lyu Xiaoying, Deputy Director of the Blood Transfusion Department, during routine blood testing of a healthy female patient. According to Xinhua News Agency, the patient’s HLA antibody test returned positive, prompting the team to conduct further genotyping. When the detected gene sequence was compared against global gene databases, it was found to be clearly distinct from all previously known sequences.
Understanding HLA: The Body’s Genetic ID Card
HLA genes, located on chromosome 6, encode proteins that regulate the human immune system. They represent the most complex and polymorphic gene system in the human body, containing dozens of gene loci, each with thousands of different alleles. With over 45,000 HLA alleles known worldwide and new ones discovered at a rate of only dozens per year, each addition to the registry is scientifically significant. The HLA system functions as a unique “genetic ID card” — except for identical twins, no two individuals share the same HLA profile.
Verification Through Advanced Sequencing
To confirm the finding was not a testing error, the research team employed high-precision nanopore sequencing technology, systematically decoding the gene’s base pairs through repeated rounds of testing. After cross-referencing the sequence against authoritative global gene databases, the team confirmed they had identified a previously unrecorded HLA allele. The discovery was submitted to the WHO HLA Nomenclature Committee, which granted the official designation HLA-DQB1*03:03:38 in March 2026. The new allele is now registered in the global public IPD-IMGT/HLA database.
The research was published in the journal HLA (Wiley) on May 15, 2026.
Clinical and Scientific Implications
Industry experts cited by Xinhua believe the discovery provides new research foundations for human immunology, clinical safety, and precision medicine, with value for both practical disease treatment and basic scientific research.
The implications span multiple areas:
Organ Transplantation: HLA matching is critical for kidney and bone marrow stem cell transplants. Each new allele recorded potentially expands the donor pool for waiting patients and helps clinicians more accurately predict post-transplant rejection risks.
Autoimmune and Infectious Diseases: HLA genes are closely linked to autoimmune conditions such as lupus and rheumatoid arthritis, as well as infectious diseases including hepatitis and tuberculosis. The new allele opens fresh research directions for prevention, precision treatment, and drug development.
Forensic and Identity Applications: More complete genetic differentiation markers improve accuracy in paternity testing, criminal investigations, and missing person identification.
Human Migration and Evolution Research: HLA genes carry traces of human evolutionary history. This new allele enriches global genetic data, aiding research on population origins, ancient migration patterns, and region-specific disease prevention.
China’s Growing Role in Gene Discovery
This discovery marks the second globally-first gene finding by the same team. In 2024, they identified a new ABO blood group allele (c.29-10T>A mutation), also a world first. The fact that the discovery was made by a hospital blood transfusion department — rather than a dedicated genetics research institute — highlights the “clinical-led” model of gene discovery becoming increasingly common in China.
Asian population genetic data has historically been underrepresented in global databases, accounting for less than 20% of entries. Each new allele discovered in Chinese populations helps address this imbalance, potentially revealing population-specific genetic variations with implications for drug development and disease treatment tailored to East Asian populations.
What’s Next
The discovery of HLA-DQB1*03:03:38 raises several questions for further investigation, including the specific nucleotide substitution that distinguishes it from its closest known allele, its prevalence in the broader Chinese population, and any potential associations with specific diseases or drug responses. As China continues to expand its genomic research capabilities, further discoveries from clinical settings are likely to follow, gradually filling gaps in the global understanding of human genetic diversity.