089 - Cystic Fibrosis: pre-conception and antenatal tests
Autor(s): C. Castellani, M. Seia
Issue: RIMeL - IJLaM, Vol. 6, N. 2, 2010 (MAF Servizi srl ed.)
Page(s): 89-98
Cystic Fibrosis is an an autosomal recessive inherited disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene codes for a protein which is an ion transport protein in the epithelial surfaces of lungs, pancreas, liver, intestines, sweat ducts and vas deferens. The article describes and discusses prenatal, pre-conception and pre-implantation mutation analysis of the CFTR gene.
Key-words: Cystic Fibrosis, inherited disorder, CFTRgene.