Búsqueda de mutaciones en el gen foxo4 en pacientes con falla ovárica prematura no-sindrómica Thesis

short description

  • Master's thesis

Thesis author

  • Garzón Venegas, Eliana del Pilar
  • Garzón Venegas, Eliana del Pilar

abstract

  • FOXO4 constitutes a coherent candidate gene associated with premature ovarian failure (POF) pathogenesis. This study sequenced the coding and exon-flanking regions of this gene in a panel of 116 POF patients and 143 controls of Tunisian origin. In both groups, the IVS2 + 41T > G sequence variant was identified. It is concluded that coding mutations of FOXO4 should not be a common cause of the disease in women from the Tunisian population. However, this study cannot exclude that FOXO4 dysfunctions, originated from open reading frame or promoter sequence variations, might be associated with the pathogenesis of the disease in other ethnical groups.
  • FOXO4 constitutes a coherent candidate gene associated with premature ovarian failure (POF) pathogenesis. This study sequenced the coding and exon-flanking regions of this gene in a panel of 116 POF patients and 143 controls of Tunisian origin. In both groups, the IVS2 + 41T > G sequence variant was identified. It is concluded that coding mutations of FOXO4 should not be a common cause of the disease in women from the Tunisian population. However, this study cannot exclude that FOXO4 dysfunctions, originated from open reading frame or promoter sequence variations, might be associated with the pathogenesis of the disease in other ethnical groups.

publication date

  • 2015/07/31

keywords

  • coding
  • disease
  • pathogenesis
  • sequence
  • tunisian

Document Id

  • 2f9552b9-dd52-4b3d-8532-2aac1d7a3b5d