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

• Authors: R. Smigiel , A. Lebioda , D. Patkowski , J. Czernik , T. Dobosz , K. Pesz , M. Kaczmarz , M.M. Sasiadek
• 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.

Keywords

EN

GENOTYPE-PHENOTYPE CORRELATION; HIRSCHSPRUNG DISEASE; POLYMORPHISM; RET GENE

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2006
• Volume: 47
• Issue: 3
• Pages: 261-267

Contributors

author

R. Smigiel

author

A. Lebioda

author

D. Patkowski

author

J. Czernik

author

T. Dobosz

author

K. Pesz

author

M. Kaczmarz

author

M.M. Sasiadek

• Document Type: ARTICLE
• Publication order reference: R. Smigiel, Genetics Department, Marcinkowskiego 1, 50?368 Wroclaw, Poland