Date of Award
Master of Science (MS)
Luis R. Cruz-Vera
Cystic fibrosis--Genetic aspects, Cystic fibrosis gene, Gene expression
Cystic Fibrosis (CF) is an autosomal recessive disease that affects 1 in 3500 people in the United States. CF affects epithelial cells in areas such as the lungs, GI tract and reproductive system. The disease is caused by variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene which result in mutations in the CFTR protein. However, some CF patients who have the same genotype for the CFTR gene experience different severities of the disease. One explanation for this is that CFTR promoter SNPs influence gene expression which could lead to differing severities of CF. To test this hypothesis, luciferase reporter constructs with CFTR promoter single nucleotide polymorphisms (SNPs) were created to test gene expression changes. Using this method, SNP 1666T>C was found to significantly decrease gene expression.
Ledbetter-Brumbeloe, Tiffany Michelle, "Functional analysis of CFTR promoter DNA variants" (2020). Theses. 315.