Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

C4 uremic variant: an acquired C4 allotype.

T R Welch, L Beischel

    Immunogenetics
    |January 1, 1985
    PubMed
    Summary
    This summary is machine-generated.

    A novel C4 variant was observed in patients with renal insufficiency, appearing acquired rather than inherited. This finding suggests potential links between uremia and C4 phenotype alterations, impacting glomerulonephritis research.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome.

    Clinical genetics·2013
    Same author

    Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment.

    American journal of medical genetics. Part A·2003
    Same author

    C5a is important in the tubulointerstitial component of experimental immune complex glomerulonephritis.

    Clinical and experimental immunology·2002
    Same author

    Use of assistive devices to address hearing impairment by older persons with disabilities.

    International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptation·2002
    Same author

    Evidence of a role for C4 in modulating interstitial inflammation in experimental glomerulonephritis.

    Clinical immunology (Orlando, Fla.)·2001
    Same author

    Glomerulonephritis associated with deficiencies and polymorphisms of complement components encoded in the class III region of the MHC.

    Frontiers in bioscience : a journal and virtual library·2001

    Area of Science:

    • Immunogenetics
    • Nephrology

    Background:

    • The major histocompatibility complex (MHC)-linked complotype region contains alleles for B, C2, and C4 loci, closely associated with HLA-DR on chromosome 6.
    • The C4A and C4B loci are duplicated and highly polymorphic, playing a crucial role in immune responses.

    Purpose of the Study:

    • To investigate a C4 variant observed in patients with renal insufficiency.
    • To determine if the observed C4 variant is inherited or acquired, particularly in the context of membranoproliferative glomerulonephritis.

    Main Methods:

    • Electrophoretic analysis, including immunofixation electrophoresis and C4-specific hemolytic overlay, was used to characterize the C4 variant.
    • Complotype and HLA typing were performed on families of affected patients.
    • Sodium dodecyl sulfate-polyacrylamide gel electrophoresis under reducing conditions analyzed C4 alpha chain molecular masses.

    Related Experiment Videos

    Main Results:

    • A C4 variant with electrophoretic mobility between C4B2 and C4B3 was identified in seven patients with renal insufficiency.
    • Family studies indicated the variant was not inherited, suggesting an acquired alteration.
    • The C4 variant appeared in plasma after the onset of uremia and could not be replicated in vitro in normal plasma.

    Conclusions:

    • The observed C4 variant is likely acquired in the presence of uremia, not a genetic trait.
    • This acquired C4 alteration may be related to the C4B2.9 allele previously associated with glomerulonephritis.
    • Distinguishing between genetic and acquired C4 alterations through family studies is essential for accurate phenotype interpretation.