A HhaI Polymorphism in the Human MEP1A Gene Encoding the Alpha Subunit of the Metalloendopeptidase Meprin
| Autor: | Klaus Zerres, Georg Dewald, Hans-Ulrich Schildhaus, Gabi Mücher |
|---|---|
| Rok vydání: | 1996 |
| Předmět: |
Genetic Markers
Genetics Polymorphism Genetic Protein family Metalloendopeptidases Biology Polymerase Chain Reaction Molecular biology Genes Hydrolase Humans Metalloendopeptidase Restriction fragment length polymorphism Astacin Deoxyribonucleases Type II Site-Specific Gene Polymorphism Restriction Fragment Length Genetics (clinical) Alpha chain G alpha subunit |
| Zdroj: | Human Heredity. 46:298-300 |
| ISSN: | 1423-0062 0001-5652 |
| Popis: | Meprins are membrane-bound oligomeric metalloendopeptidases belonging to the astacin protein family. The meprin isolated from human small intestinal mucosa was originally known as N-benzoyl-L-tyrosyl-p-aminobenzoic acid (PABA peptide) hydrolase (PPH). Here we describe the first genetic marker for the human MEP1A gene encoding the alpha subunit of this enzyme. The polymorphism changes codon 176 of the mature alpha chain of PPH from CAA to CAG. Using the polymerase chain reaction, this variation is easily detectable as a HhaI restriction fragment length polymorphism. The two alleles are both common, probably in all major races. |
| Databáze: | OpenAIRE |
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