No evidence for angiotensin type 2 receptor gene polymorphism in intron 1 in patients with coarctation of the aorta and Ullrich-Turner syndrome.
Pediatr Cardiol
; 27(5): 636-9, 2006.
Article
em En
| MEDLINE
| ID: mdl-16944335
ABSTRACT
In male patients with congenital anomalies of the kidney and urinary tract, an increased incidence of a polymorphism in the angiotensin type 2 receptor gene (AT2R) has been identified. The AT2R has been shown to be involved in apoptosis, particularly during embryogenesis. The aim of this study was to examine the A-->1675G transition polymorphism in intron 1 of the AT2R gene that is located on the X chromosome in patients with coarctation of the aorta (CoA) with and without Ullrich-Turner syndrome (UTS). Screening of DNA samples was performed with restriction fragment length polymorphism analysis. Ninety-seven patients with CoA, 28 girls with UTS, 10 girls with UTS and CoA, and 96 control individuals were studied. There was no significant difference in the distribution of A and G-genotypes in any of the patient groups compared to controls. An A-->1675G transition in the AT2R gene seems not to be involved in the pathogenesis of aortic coarctation.
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Base de dados:
MEDLINE
Assunto principal:
Coartação Aórtica
/
Polimorfismo Genético
/
Síndrome de Turner
/
Íntrons
/
Receptor Tipo 2 de Angiotensina
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article