Date of Award
Life & Environmental Sciences
The purpose of this study was to understand the various mutations of cystic fibrosis on chromosome seven, particularly the most commonly recognized mutation, DeltaF508. Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in Caucasians, affecting about one in 2,500 live births, with a carrier frequency of one in 25. Through this research we demonstrate that DeltaF508 genotype actually can predict disease severity in an ethnically diverse CF population, to an extent. Clinical and genetic data were collected for 214 Cystic Fibrosis patients and entered into a database. The diagnosis of Cystic Fibrosis is based on clinical symptoms, particularly respiratory and digestive complications, and a raise in the electrolytic ion concentration in sweat. Upon complete statistical analysis of the data, including haplotype verification, it can be determined that the DeltaF508 genotype does suggests that patients with two DeltaF508 allele demonstate a greater degree of irregularity with the digestive system.
Szudera, James, "Testing the Severity of the DeltaF508 Genotype in Patients With Cystic Fibrosis" (1996). Life and Environmental Sciences Undergraduate Theses. 152.