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Related Experiment Videos

DNA polymorphisms of the complement C6 and C7 genes

B A Fernie1, R Würzner, D J Unsworth

  • 1Molecular Immunopathology Unit, MRC Centre, Cambridge, U.K.

Annals of Human Genetics
|April 1, 1995
PubMed
Summary

This study details genetic markers for C6 and C7, revealing seven DNA polymorphisms and their frequencies in Caucasian and Japanese populations. The findings enable haplotype definition and show generally weak allelic associations.

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Area of Science:

  • Human Genetics
  • Molecular Biology
  • Population Genetics

Background:

  • The C6 and C7 loci are known to harbor numerous genetic markers at both protein and DNA levels.
  • Seven common DNA polymorphisms have been identified across approximately 300 kbp of chromosome 5p12-14.

Purpose of the Study:

  • To report a novel TaqI restriction fragment length polymorphism (RFLP) for C7 and a method for typing a C7 variant (T368S).
  • To re-investigate published RFLPs, determine their frequencies in North European Caucasians, and revise fragment size parameters.
  • To precisely locate genetic markers within the C6 and C7 genes and estimate gene frequencies for DNA polymorphisms associated with C7 M/N and C6 A/B phenotypes.

Main Methods:

  • Utilized TaqI restriction enzyme for RFLP analysis of C7.

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  • Developed a typing method for the C7 variant (T368S).
  • Re-analyzed existing RFLP data, focusing on fragment sizes and allele frequencies in specific populations (North European Caucasian, Japanese).
  • Determined the precise genomic locations of C6 and C7 markers (exons and introns).

    • Main Results:

    • A new TaqI RFLP for C7 and a typing method for the T368S variant were established.
    • Gene frequencies for the second commonest allele of seven markers ranged from 0.2 to 0.37, with exceptions in Japanese populations for C6 A/B.
    • Estimated gene frequencies for DNA polymorphisms correlated with C7 M/N and C6 A/B phenotypes matched phenotypic estimates.
    • The identified markers allow for the definition of 128 possible haplotypes, with 28 observed, and generally weak allelic associations were noted.

    Conclusions:

    • The characterized DNA polymorphisms provide valuable tools for genetic studies of C6 and C7.
    • The data contribute to a better understanding of genetic variation and haplotype structure within these loci.
    • Weak allelic associations suggest potential for high genetic diversity and independent segregation of markers within the studied regions.