A common Ser/Thr polymorphism in the perforin-homologous region of human complement component C7.
Article Details
- CitationCopy to clipboard
Dewald G, Nothen MM, Ruther K
A common Ser/Thr polymorphism in the perforin-homologous region of human complement component C7.
Hum Hered. 1994 Nov-Dec;44(6):301-4.
- PubMed ID
- 7860081 [ View in PubMed]
- 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.