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Ankylosing spondylitis without B27: no evidence for gene conversion
C T Pease1, S A Ellis, A J McMichael
1Department of Rheumatology, Westminster Hospital, London.
Annals of the Rheumatic Diseases
|December 1, 1988
Summary
Human Leukocyte Antigen (HLA) molecules were analyzed in patients with ankylosing spondylitis (AS) negative for HLA-B27. No genetic variants were found, suggesting gene conversion is not the cause of AS in these patients.
Area of Science:
- Immunogenetics
- Rheumatology
- Molecular Biology
Background:
- Ankylosing spondylitis (AS) is a chronic inflammatory disease primarily affecting the spine.
- The Human Leukocyte Antigen B27 (HLA-B27) gene is strongly associated with AS, but not all patients are positive for this allele.
- The mechanism underlying AS in HLA-B27 negative individuals remains unclear.
Purpose of the Study:
- To investigate potential genetic variations in HLA-A and HLA-B molecules in patients with HLA-B27 negative ankylosing spondylitis.
- To explore the hypothesis that gene conversion from an HLA-B27 positive gene might explain AS in HLA-B27 negative patients.
Main Methods:
- Isoelectric focusing gel electrophoresis was employed to analyze HLA-A and HLA-B antigen isoelectric points.
- Patient samples from five individuals with HLA-B27 negative AS were compared to HLA-matched controls.
Main Results:
- The isoelectric points of HLA-A and HLA-B antigens were identical between patients with HLA-B27 negative AS and their matched controls.
- This indicates no detectable differences or variants in the analyzed HLA-A and B antigens.
Conclusions:
- The findings suggest that structural variations in HLA-A and B antigens are not responsible for AS in HLA-B27 negative patients.
- Gene conversion from an HLA-B27 positive gene is an unlikely explanation for the development of AS in this patient cohort.