A common Ser/Thr polymorphism in the perforin-homologous region of human complement component C7.
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.
Institute of Human Genetics, University of Bonn, Germany.
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Dewald
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Nöthen
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Rüther
D001483:Base Sequence; D003184:Complement C7 / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics; D008969:Molecular Sequence Data; D054353:Perforin; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D052899:Pore Forming Cytotoxic Proteins; D012694:Serine; D013912:Threonine
D003184:Complement C7; D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin; D013912:Threonine; D012694:Serine; C040838:endodeoxyribonuclease MaeIII; D015252:Deoxyribonucleases, Type II Site-Specific