PL EN


Preferences help
enabled [disable] Abstract
Number of results
2006 | 47 | 3 | 261-267
Article title

Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype

Title variants
Languages of publication
EN
Abstracts
EN
Hirschsprung disease (HSCR) is a congenital, heterogeneous disorder, characterized by the absence of intestinal ganglion cells. Recent advances show that the RET gene is a major locus involved in the pathogenesis of HSCR. The aim of this study was to analyse if the HSCR phenotype in the Polish population is associated with the presence of polymorphisms in exons 2, 3, 7, 11, 13, 14 and 15 of the RET gene. Molecular results were compared with clinical and long-term follow-up data in 70 Polish patients with HSCR (84.3% with a short segment and 15.7% with a long segment of aganglionic gut). Single-nucleotide polymorphisms were analysed by using the minisequencing SNaPshot multiplex method. The 135G>A polymorphism in RET exon 2 was overrepresented in HSCR patients, compared with a healthy control group. Moreover, the 135G>A variant was shown to be associated with the severe HSCR phenotype. Two other polymorphisms, 2071G>A in exon 11 and 2712C>G in exon 15, were underrepresented in the patients. The results confirm that these RET polymorphisms play a role in the aetiology of HSCR.
Discipline
Publisher

Year
Volume
47
Issue
3
Pages
261-267
Physical description
Contributors
author
author
author
author
author
author
author
author
References
Document Type
ARTICLE
Publication order reference
R. Smigiel, Genetics Department, Marcinkowskiego 1, 50?368 Wroclaw, Poland
Identifiers
YADDA identifier
bwmeta1.element.element-from-psjc-8cb41655-879f-3ff9-a837-7f0ddec49e40
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.