Identification of polymorphic sites of the human bradykinin B2 receptor gene.
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Braun A, Kammerer S, Bohme E, Muller B, Roscher AA
Identification of polymorphic sites of the human bradykinin B2 receptor gene.
Biochem Biophys Res Commun. 1995 Jun 6;211(1):234-40.
- PubMed ID
- 7779090 [ View in PubMed]
- Abstract
The characterization of the genomic organization of the B2 bradykinin receptor gene enabled us to systematically search for polymorphic markers in this gene in a South German cohort (N = 179). We identified at least three polymorphic sites in each of the three exons existing: (i) in exon 1 next to the promoter region, a tandem repeat polymorphism consists of three common alleles, (ii) in exon 2 at nucleotide position 181 of the cDNA a C to T transition leads to an aminoacid substitution from arginine to cysteine in the receptor protein at position 14 (R14C), and (iii) a more complex repeat polymorphism, located in the 3' not-translated region of exon 3, comprises at least two common alleles and two rare variants. These new genetic markers provide valuable tools to elucidate a potential role of a hereditary dysfunction of the B2 bradykinin receptor gene in disorders such as hypertension or ischemic heart disease.