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Related Experiment Videos

Molecular basis of polymorphisms of human complement component C3.

M Botto1, K Y Fong, A K So

  • 1Department of Medicine, Royal Postgraduate Medical School, London, United Kingdom.

The Journal of Experimental Medicine
|October 1, 1990
PubMed
Summary

The study identifies genetic variations in the C3 protein, specifically C3 fast (C3 F) and C3 slow (C3 S) allotypes, linked to specific diseases. These variations are due to single nucleotide changes, enabling RFLP analysis for disease association.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Immunology

Background:

  • Complement component 3 (C3) exhibits common allotypic variants, C3 fast (C3 F) and C3 slow (C3 S).
  • The C3 F allele is more frequent in Caucasoid populations and has been associated with partial lipodystrophy, IgA nephropathy, and Indian childhood hepatic cirrhosis.

Purpose of the Study:

  • To investigate the molecular basis of C3 allotypic variants.
  • To characterize the genomic organization and polymorphisms within the human C3 gene.
  • To establish the concordance between molecular polymorphisms and C3 allotypes.

Main Methods:

  • Polymerase chain reaction (PCR) amplification of human C3 gene.
  • Restriction fragment length polymorphism (RFLP) analysis using HhaI enzyme.

Related Experiment Videos

  • Characterization of a second C3 structural polymorphism using monoclonal antibody HAV 4-1.

    • Main Results:

    • A single nucleotide change (C to G) at nucleotide 364 in exon 3 distinguishes C3 S from C3 F, altering an arginine to glycine residue.
    • This nucleotide change creates a polymorphic HhaI restriction site, showing absolute concordance with C3 F/S allotypes in 50 subjects.
    • A second polymorphism at codon 314 in exon 9 involves a leucine/proline substitution (HAV 4-1+/–).
    • Three intronic RFLPs (BamHI, EcoRI, SstI) were identified but showed no allelic association with the C3 F/S locus.

    Conclusions:

    • The study elucidates the molecular basis of C3 F/S and HAV 4-1+/– polymorphisms.
    • RFLP analysis provides a reliable method for genotyping C3 allotypes.
    • Understanding these C3 gene polymorphisms can aid in studying their potential functional differences and disease associations.