A common Ser/Thr polymorphism in the perforin-homologous region of human complement component C7

Hum Hered. 1994 Nov-Dec;44(6):301-4. doi: 10.1159/000154235.

Abstract

Complement component C7 plays an important role in the formation of the membrane attack complex of the complement system. Here we describe a novel polymorphism of human C7, namely a nucleotide sequence polymorphism changing codon 367 from AGT (encoding Ser) to ACT (encoding Thr). Using the polymerase chain reaction, the polymorphism is easily detectable either as a MaeIII restriction fragment length polymorphism or by single-strand conformation analysis. The two alleles are both very common, probably in all major races.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Complement C7 / genetics*
  • Deoxyribonucleases, Type II Site-Specific
  • Humans
  • Membrane Glycoproteins / genetics
  • Molecular Sequence Data
  • Perforin
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single-Stranded Conformational
  • Pore Forming Cytotoxic Proteins
  • Serine
  • Threonine

Substances

  • Complement C7
  • Membrane Glycoproteins
  • Pore Forming Cytotoxic Proteins
  • Perforin
  • Threonine
  • Serine
  • endodeoxyribonuclease MaeIII
  • Deoxyribonucleases, Type II Site-Specific