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

Braun A,Kammerer S,Böhme E,Müller B,Roscher AA

doi

10.1006/bbrc.1995.1801

subject

Has Abstract

pub_date

1995-06-06 00:00:00

pages

234-40

issue

1

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(85)71801-3

journal_volume

211

pub_type

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