HGM2003 Poster Abstracts
2. Medical Genomics I

Poster 20

Loss of expression of H19 gene in Beckwith-Wiedemann and Wilms tumor Mexican Children

¹Eugenia Ruiz-Cruz, ¹Rosenda Peñaloza Espinosa, ¹Carmen Navarrete Cadena, ²Ariatna Gonzalez Del Angel, ²Esther Liebermann Hernandez, ²Victoria Del Castillo, ¹Fabio Salamanca Gómez
¹UIM Genética Humana,CMN SXXI, IMSS, Av. Cuauhtémoc 330, 06725, ²UI Genética Humana, INP, SS, Av. del Iman e Insurgentes

Introduction. The Beckwith-Wiedemann syndrome (BWS) is an overgrown syndrome (OMIM 130650).The patients present more risk to cancer. The 11p15.5 locus is involved in this pathology. Any genes of this chromosomic region present mutations or alterations in genomic imprinting patterns. H19 gene is involved in BWS. Objective. To determinate if are differences among BWS patients and those BWS with Wilms tumor (WT) in H19 gene. Methodology. We analyzed 21 patients only with BWS and 4 both with BWS and WT. The RT-PCR of polymorphic regions of H19 gene was performed. Results. In patients with both BWS and WT did not we observed expression of H19 gene (gain of imprinting). Whereas only in those with BWS, 4 patients presented the expression of two alleles (loss of imprinting) and the others patients expressed one maternal allele (normal imprinting). Conclusions. This study demonstrates that the loss of expression of H19 gene is important to the Wilms tumour development in Mexican children with BWS.

Other abstracts in same session