A common Ser/Thr polymorphism in the perforin-homologous region of human complement component C7
| Autor: | Markus M. Nöthen, Katja Rüther, Georg Dewald |
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| Předmět: |
Pore Forming Cytotoxic Proteins
Threonine Molecular Sequence Data Complement factor I Polymerase Chain Reaction law.invention law Genetics Serine Humans Allele Deoxyribonucleases Type II Site-Specific Genetics (clinical) Polymerase chain reaction Polymorphism Single-Stranded Conformational Membrane Glycoproteins Polymorphism Genetic biology Base Sequence Perforin Nucleic acid sequence Molecular biology Complement C7 Complement system biology.protein Restriction fragment length polymorphism Complement membrane attack complex Polymorphism Restriction Fragment Length |
| Zdroj: | Europe PubMed Central |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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