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Related Experiment Videos

Restriction fragment length polymorphism analysis in ankylosing spondylitis.

J D Reveille1, W J Koopman, B O Barger

  • 1Department of Internal Medicine, School of Medicine, University of Texas Health Science Center, Houston 77225.

The American Journal of Medicine
|December 23, 1988
PubMed
Summary

Restriction fragment length polymorphism (RFLP) analysis identified a gene fragment associated with ankylosing spondylitis, particularly peripheral joint involvement. This finding suggests other major histocompatibility complex class I genes influence the condition.

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Association between copy number variations of HLA-DQA1 and ankylosing spondylitis in the Chinese Han population.

Genes and immunity·2013

Area of Science:

  • Immunogenetics
  • Rheumatology

Background:

  • Ankylosing spondylitis is a complex inflammatory disease with a strong genetic component.
  • Major histocompatibility complex (MHC) class I genes are implicated in autoimmune conditions.
  • Previous research has linked human leukocyte antigen B27 (HLA-B27) to ankylosing spondylitis.

Purpose of the Study:

  • To investigate the association of MHC class I genes with ankylosing spondylitis using RFLP analysis.
  • To identify specific RFLP markers linked to disease susceptibility and clinical manifestations.

Main Methods:

  • Restriction fragment length polymorphism (RFLP) analysis was performed on DNA from 52 ankylosing spondylitis patients and 107 controls.
  • A class I-specific B7 cDNA probe (pDP001) was used to detect a 9.2-kilobase PvuII RFLP.

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  • Segregation analysis was conducted in 11 multiplex families.

    • Main Results:

    • A 9.2-kilobase PvuII RFLP was found to be closely associated with ankylosing spondylitis, especially peripheral joint involvement.
    • This RFLP was associated with human leukocyte antigen (HLA) A3 and A9 alleles.
    • Segregation analysis indicated that this RFLP often independently segregated from B27 haplotypes.

    Conclusions:

    • The identified 9.2-kilobase PvuII RFLP may be a marker for ankylosing spondylitis predisposition or modification.
    • The findings suggest that MHC class I genes other than HLA-B27 play a role in ankylosing spondylitis.
    • Discrepancies with other studies may be due to differences in patient populations and genetic heterogeneity.