HLA-B27
HLA-B27 represents one of the most extensively studied alleles of the human major histocompatibility complex (HLA) class I, locus B. This antigen is associated with a number of autoimmune diseases, primarily belonging to the group of seronegative spondyloarthropathies (SpA). Molecular genetic testing for HLA-B27 is important in the differential diagnosis of this group of diseases, enables the identification of predisposition to the development of pathology, and allows for predicting its course.
The genes of the human major histocompatibility complex are located on the short arm of chromosome 6 and encode proteins involved in antigen presentation to immune system cells. The protein products of class I gene expression (HLA-A, HLA-B, HLA-C) are crucial for the functioning of the immune system and the regulation of the immune response, facilitating interaction with cytotoxic T lymphocytes.
HLA-B27 is distinguished by specific structural features that may predispose to improper protein folding in the endoplasmic reticulum, inefficient intracellular processing, and disruption of immune homeostasis. Such alterations can lead to the development of an immunopathological process resulting in autoimmune inflammation.
SpA are characterized not only by involvement of the musculoskeletal system but also by damage to other organs and systems (eyes, skin, mucous membranes, heart, aorta, kidneys), as well as by the absence of rheumatoid factor in the blood serum and a frequent association with HLA-B27.
This group of diseases includes:
- Ankylosing spondylitis (Bechterew’s disease);
- Reactive arthritis (Reiter’s syndrome);
- Psoriatic arthritis;
- Enteropathic arthritis associated with inflammatory bowel disease (Crohn's disease and ulcerative colitis) and Whipple's disease;
- Juvenile spondyloarthritis;
- Undifferentiated spondyloarthritis.
The diversity of extra-articular manifestations reflects the clinical polymorphism of SpA and characterizes them as diseases with a systemic type of inflammation, in which joint and spinal pathology can occur in various combinations with involvement of other organs.
The frequency of HLA-B27 allele carriage in patients with ankylosing spondylitis is 90–95%; in juvenile spondyloarthritis, 80–90%; in reactive arthritis, 60–90%; and in psoriatic and enteropathic arthritis, 50–60%. However, in patients with enteropathic arthritis presenting with peripheral arthritis, the frequency of HLA-B27 detection does not significantly differ from the population level (8–10%). An increased frequency of HLA-B27 carriage is observed only in patients with spondylitis and sacroiliitis.
Determination of HLA-B27 is not a primary diagnostic criterion but significantly enhances diagnostic accuracy in the presence of clinical manifestations. Detection of this allele in conjunction with a characteristic clinical and radiological picture can confirm or exclude a diagnosis within the group of seronegative spondyloarthritis (SpA).
Indications:
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Chronic lower back pain
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Suspected ankylosing spondylitis
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Reactive arthritis
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Psoriatic arthritis with spinal involvement
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Enteropathic arthritis
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Juvenile spondyloarthritis
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Undifferentiated spondyloarthritis
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Family history of seronegative spondyloarthritis (SpA)
HLA-B27
REAGENT KIT DESIGNED FOR DETECTION OF B27 ALLELE OF HUMAN MAJOR HISTOCOMPATIBILITY COMPLEX (HLA) CLASS I BY REAL-TIME PCR
The HLA-B27 reagent kit is designed for detection of B27 allele of human major histocompatibility complex (HLA) class I in human biomaterial by real-time PCR using detecting thermal cycler. HLA-B27 detection enables the determination of predisposition to the development of ankylosing spondylitis (Bechterew’s disease) and rheumatoid arthritis.
Biomaterial: peripheral blood.
The kit can be used in clinical diagnostic laboratories of medical institutions and in research practice.
This set of reagents has a CT-1 certificate and is included in the register of Russian industrial products.
The real-time format is designed for PCR results detection during amplification using detecting thermal cyclers.
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