Delta F50r8 Mutation Cystic Fibrosis

Background of the disease
Deletion of the codon for phenylalanine at position 508 (deltaf508) is the most frequent disease-causing mutation in the cystic fibrosis transmembrane conductance regulator (cftr) gene. In heterologous cells, defective processing of the deltaf508 protein results in endoplasmic reticulum retention, proteolytic degradation, and absence of adenosine 3',5'-cyclic monophosphate (camp)-dependent plasma membrane cl(-) conductance. However, data with respect to the processing block of deltaf508 protein in native epithelia are limited and conflicting.

Occurance : when each of the parents contributes a gene to their child, they could pass on either their cf gene or their non-cf gene,each pregnancy could result in one of three outcomes