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NGS and HLA: The long road ahead
Kelly J Ingram1, Elaine F O'Shields1, David F Kiger1
1HLA/Immunogenetics and Immunodiagnostics Laboratories, Department of Pathology, Wake Forest School of Medicine, Winston-Salem, NC 27103, United States.
Human Immunology
|March 21, 2020
Summary
Researchers identified 28 new human leukocyte antigen (HLA) alleles during routine clinical testing. The discovery of novel HLA types suggests they are more common than anticipated, impacting patient diagnostics and donor matching.
Area of Science:
- Immunogenetics
- Molecular Biology
- Clinical Diagnostics
Background:
- Routine clinical human leukocyte antigen (HLA) typing is crucial for transplantation and disease association studies.
- Previous work from our laboratory has focused on identifying novel HLA alleles.
- The frequency and clinical significance of novel HLA alleles remain incompletely understood.
Purpose of the Study:
- To report the identification and characterization of newly discovered HLA alleles.
- To assess the potential frequency of novel HLA alleles in the patient population.
- To highlight the implications of novel HLA allele discovery for clinical practice.
Main Methods:
- Analysis of high-resolution HLA typing data generated during routine clinical laboratory testing.
- Bioinformatic approaches for novel allele identification and sequence verification.
- Comparison of novel allele sequences against existing HLA databases.
Main Results:
- Identification and description of 28 novel HLA alleles.
- One novel HLA allele was found in two unrelated patients, suggesting a potentially higher prevalence.
- The findings underscore the ongoing discovery of genetic diversity within the HLA system.
Conclusions:
- Novel HLA alleles are being identified at a significant rate during routine clinical testing.
- The continued discovery of novel HLA alleles emphasizes the need for comprehensive HLA typing and updated databases.
- Accurate HLA allele identification is critical for effective patient diagnostics and minimizing donor-recipient incompatibilities.
