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Related Experiment Videos

Strong associations between RFLP and protein polymorphisms for CD46.

A N Wilton1, R W Johnstone, I F McKenzie

  • 1School of Biological Sciences, Macquarie University, NSW, Australia.

Immunogenetics
|January 1, 1992
PubMed
Summary

Researchers identified genetic variations in human CD46 (membrane cofactor protein) using restriction fragment length polymorphisms (RFLPs). These RFLPs are strongly associated with CD46 protein isoforms, suggesting a link between genetic makeup and protein expression.

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Area of Science:

  • Immunogenetics
  • Molecular Biology
  • Human Genetics

Background:

  • Human CD46 (membrane cofactor protein) is a cell surface glycoprotein involved in complement regulation.
  • CD46 plays a role in the factor I-mediated cleavage of C3b and C4b components.
  • Understanding CD46 genetic variations is crucial for its role in immune responses.

Purpose of the Study:

  • To investigate restriction fragment length polymorphisms (RFLPs) in human CD46.
  • To determine the association between CD46 RFLPs and its major protein isoforms.
  • To explore linkage disequilibrium between polymorphic sites and splicing preferences.

Main Methods:

  • Utilized a CD46 cDNA clone to analyze RFLPs in over 300 Caucasians using Pvu II, Hin dIII, and Bgl. II restriction enzymes.

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  • Determined CD46 protein isoforms (alpha and beta) via western blot on peripheral blood lymphocytes.
  • Analyzed the association between identified RFLP haplotypes and protein isoforms in 30 unrelated subjects.

    • Main Results:

    • Identified two-allele RFLPs for Pvu II, Hin dIII, and Bgl. II with distinct allele frequencies.
    • Observed strong linkage disequilibrium between these polymorphic sites, defining common haplotypes (e.g., P2, H2, B2; P1, H1, B2).
    • Found a significant association between specific RFLP haplotypes and the predominant expression of CD46 alpha or beta protein isoforms.

    Conclusions:

    • Human CD46 exhibits genetic polymorphism detectable by RFLPs.
    • These RFLPs are in linkage disequilibrium with sites influencing CD46 mRNA splicing.
    • The study suggests a genetic basis for the differential expression of CD46 protein isoforms.