title: Identification of polymorphic sites of the human bradykinin B2 receptor gene.
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.
authors.affiliation: Children's Hospital, Department of Clinical Chemistry and Biochemistry, University of Munich, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Braun
authors.forename: S
authors.initials: S
authors.lastname: Kammerer
authors.forename: E
authors.initials: E
authors.lastname: Böhme
authors.forename: B
authors.initials: B
authors.lastname: Müller
authors.forename: A A
authors.initials: AA
authors.lastname: Roscher
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D015331:Cohort Studies; D017931:DNA Primers; D005091:Exons; D005787:Gene Frequency; D005858:Germany; D015186:Hominidae / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D043782:Receptor, Bradykinin B2; D018002:Receptors, Bradykinin / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D017931:DNA Primers; D043782:Receptor, Bradykinin B2; D018002:Receptors, Bradykinin