BANK OF FETAL BIOLOGICAL SAMPLES
- 1 Years 2002/2003
- 49.064€ Total Award
A considerable high number of congenital manformations are known in humans. Some of these are due to alterations in genes that play a fundamental role in human development. Therefore, such alterations cause prenatal mortality and as a consequence it is very difficult to obtain biological samples to study. The aim of this project is to collect and to store biological materials (cells and DNA) derived from malformed fetuses. This material will be screened by cytogenetics analysis in order to identify those cases in which, also by the use of molecular genetics technology such as “microchips arrays”, it is possible to identify and functionally analyze genes responsible for the defect. It is expected that alterations in some of these genes, other than a role in congenital malformations, might have a role in adult life pathologies.
Scientific Publications
- 2007 BMC GENOMICS
Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy
- 2007 ENDOCRINOLOGY
Conditional inactivation of the E-cadherin gene in thyroid follicular cells affects gland development but does not impair junction formation
- 2005 ANNALS OF HUMAN GENETICS
Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval