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 |
|---|---|
| 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