Identification of polymorphic sites of the human bradykinin B2 receptor gene

Biochem Biophys Res Commun. 1995 Jun 6;211(1):234-40. doi: 10.1006/bbrc.1995.1801.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Base Sequence
  • Cohort Studies
  • DNA Primers
  • Exons
  • Gene Frequency
  • Germany
  • Hominidae / genetics*
  • Humans
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Receptor, Bradykinin B2
  • Receptors, Bradykinin / genetics*
  • Repetitive Sequences, Nucleic Acid


  • DNA Primers
  • Receptor, Bradykinin B2
  • Receptors, Bradykinin

Associated data

  • GENBANK/X86164
  • GENBANK/X86165
  • GENBANK/X86166
  • GENBANK/X86167
  • GENBANK/X86168
  • GENBANK/X86169
  • GENBANK/X86170
  • GENBANK/X86171
  • GENBANK/X86180