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HLA antigens and alkaptonuria.

G J Pourel, C Raffoux, G Faure

    The Journal of Rheumatology. Supplement
    |January 1, 1977
    PubMed
    Summary
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    The human leukocyte antigen B27 (HLA B27) is associated with alkaptonuria (AKU) and ochronosis. This genetic link suggests a potential connection between HLA B27 and the gene responsible for homogentisic acid oxidase synthesis.

    Area of Science:

    • Medical Genetics
    • Immunology
    • Biochemistry

    Background:

    • Alkaptonuria (AKU) is a rare inherited metabolic disorder.
    • Ochronosis is a condition characterized by the deposition of a pigment in connective tissues.
    • The genetic basis of AKU and its association with other genetic markers are not fully understood.

    Purpose of the Study:

    • To investigate the association between human leukocyte antigen B27 (HLA B27) and alkaptonuria (AKU) in Family C.
    • To determine the prevalence of HLA B27 in individuals with and without AKU and ochronosis.
    • To explore potential genetic linkage between HLA B27 and the gene responsible for homogentisic acid oxidase synthesis.

    Main Methods:

    • Human leukocyte antigen (HLA) typing was performed on 30 members of Family C.

    Related Experiment Videos

  • Homogentisic acid determination was conducted.
  • Statistical analysis was used to assess the association between HLA B27 and AKU/ochronosis.

    • Main Results:

    • The antigen HLA B27 was present in a high proportion of individuals with AKU and ochronosis within Family C.
    • Specifically, 8 out of 10 subjects with AKU, with or without arthropathy or spondylosis, tested positive for HLA B27.
    • HLA B27 was found in all second-generation members and 15 of 21 third-generation members.

    Conclusions:

    • The study suggests a significant association between HLA B27 and alkaptonuria (AKU) and ochronosis.
    • While HLA B27 is not the gene for homogentisic acid oxidase synthesis, it may be genetically linked or associated with it.
    • Further research is warranted to elucidate the precise genetic relationship.