Abstract
Complement component C7 plays an important role in the for-mation 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 Mae III restriction fragment length polymorphism or by single-strand conformation analysis. The two alleles are both very common, probably in all major races.
Original language | English |
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Pages (from-to) | 305-311 |
Number of pages | 7 |
Journal | Human heredity |
Volume | 44 |
Issue number | 6 |
DOIs | |
State | Published - 1994 |
Keywords
- Heritability
- Path analysis
- Regressive model
- Segregation analysis
- Tau path model