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.
journal_name
Biochem Biophys Res Communjournal_title
Biochemical and biophysical research communicationsauthors
Braun A,Kammerer S,Böhme E,Müller B,Roscher AAdoi
10.1006/bbrc.1995.1801subject
Has Abstractpub_date
1995-06-06 00:00:00pages
234-40issue
1eissn
0006-291Xissn
1090-2104pii
S0006-291X(85)71801-3journal_volume
211pub_type
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