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Sequence polymorphism of human complement factor H.

A J Day1, A C Willis, J Ripoche

  • 1Department of Biochemistry, University of Oxford, United Kingdom.

Immunogenetics
|January 1, 1988
PubMed
Summary
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Factor H, a complement system regulator, exhibits a common tyrosine/histidine polymorphism at amino acid position 384. This genetic variation is linked to the two main Factor H charge variants, FH1 and FH2.

Area of Science:

  • Immunology
  • Molecular Biology
  • Genetics

Background:

  • Factor H is a key regulator of the complement system, a crucial part of innate immunity.
  • Understanding genetic variations in Factor H is important for studying its role in immune regulation and associated diseases.

Purpose of the Study:

  • To characterize the complete cDNA coding sequence of Factor H.
  • To identify and analyze a specific polymorphism within the Factor H gene.
  • To investigate the relationship between this polymorphism and Factor H charge variants.

Main Methods:

  • Derivation of the complete cDNA coding sequence using overlapping clones.
  • Nucleotide sequencing to identify variations at base 1277.
  • Protein sequencing of trypsin-digested Factor H from pooled donor plasma.

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Main Results:

  • A T/C polymorphism was identified at nucleotide position 1277 in the Factor H cDNA.
  • This corresponds to a tyrosine/histidine polymorphism at amino acid position 384.
  • Protein analysis confirmed the presence of both tyrosine and histidine at position 384 in a 2:1 ratio.

Conclusions:

  • The identified tyrosine/histidine polymorphism at position 384 is a significant genetic feature of Factor H.
  • This polymorphism likely explains the sequence difference between the two major Factor H charge variants, FH1 and FH2.
  • Further research into this polymorphism may elucidate its functional and clinical implications.