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Molecular characterization of human complement factor B subtypes.

C Davrinche1, M Abbal, A Clerc

  • 1INSERM, Unité 100, CHU Purpan, Toulouse, France.

Immunogenetics
|January 1, 1990
PubMed
Summary
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Molecular analysis revealed a key point mutation distinguishing BF*S and BF*FB alleles. This genetic difference in the complement factor B gene results in distinct amino acid sequences, clarifying allele subtypes.

Area of Science:

  • Molecular genetics
  • Immunogenetics
  • Biochemistry

Background:

  • Two subtypes of the BF*F alleles (BF*FA and BF*FB) were previously recognized, but their molecular basis remained uncharacterized.
  • The complement factor B (BF) gene plays a crucial role in the immune system.

Purpose of the Study:

  • To elucidate the molecular differences between BF*S, BF*FA, and BF*FB alleles.
  • To identify the specific genetic mutation responsible for the BF*F allele subtypes.

Main Methods:

  • Sequencing of the BF gene's Ba fragment (1.7 kb) using polymerase chain reaction (PCR) amplification.
  • Amino-terminal sequencing of immunoprecipitated factor B from serum using polyvinylidene fluoride (PVDF) membranes.

Main Results:

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  • A point mutation was identified at codon 7, changing cytosine (BF*S) to thymidine (BF*FB).
  • This results in an amino acid substitution: arginine (BF*S) to tryptophan (BF*FB).
  • BF*FA subtypes are characterized by glutamine at position 7, while BF*FB has tryptophan.

Conclusions:

  • The molecular basis for BF*F allele subtypes has been established.
  • Specific amino acid differences at position 7 distinguish BF*FA and BF*FB alleles.