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Clinical Chemistry 50: 448-451, 2004; 10.1373/clinchem.2003.025593
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(Clinical Chemistry. 2004;50:448-451.)
© 2004 American Association for Clinical Chemistry, Inc.

Technical Briefs

Identification of Twelve Polymorphisms in the Endothelin-1 Gene by Use of Fluorescently Labeled Oligonucleotides and PCR with Restriction Fragment Polymorphism Analysis

Konstanze Diefenbach1, Farhad Arjomand Nahad1, Christian Meisel1,a, Ingo Fietze2, Ingolf Cascorbi3, Karl Stangl4, Olfert Landt5, Reinhold Kerb6, Ulrich Brinkmann6 and Ivar Roots1

1 Institute of Clinical Pharmacology,2 Sleep Medical Centre, and4 Department of Internal Medicine, Charité, Humboldt University of Berlin, Berlin, Germany;3 Institute of Pharmacology, Ernst Moritz Arndt University, Greifswald, Germany;5 TIB MOLBIOL, Syntheselabor, Berlin, Germany;6 Epidauros Biotechnology AG, Bernried, Germany

aaddress correspondence to this author at: Institute of Clinical Pharmacology, University Hospital Charité, Campus Charité Mitte, Schumannstrasse 20/21, 10117 Berlin, Germany; fax 49-30-450-525932, e-mail christian.meisel@charite.de

The first 20% of the full text of this article appears below.

Of the three endothelin peptides, endothelin-1, -2, and -3, endothelin-1 (EDN1) is the predominant isoform in the vascular system. EDN1 is a potent endogenous vasoconstrictor, has positive inotropic and chronotropic effects and mitogenic properties, influences homeostasis, and stimulates the renin-angiotensin-aldosterone and the sympathetic systems (1)(2)(3). EDN1 plays an important role in the cardiovascular system (4).

Pre-pro-EDN1 mRNA (2026 nucleotides) is the product of the human EDN1 gene (6836 nucleotides), which is located on chromosome 6p23-p24. The mature 21-amino acid EDN1 is generated by subsequent enzymatic cleavage of the big-EDN1 (1). Eight variants of EDN1, which may influence the hereditary risk of cardiovascular diseases, including coronary heart disease, hypertension, and ventricular arrhythmia (5)(6)(7)(8)(9)(10)(11)(12), have already been located and examined:






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