A Common Ser/Thr Polymorphism in the Perforin-Homologous Region of Human Complement Component C7

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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.

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