Show simple item record

dc.contributor.advisorMarie Vanisko
dc.contributor.advisorJoseph Siniski
dc.contributor.advisorDarrell Hagen
dc.contributor.authorSzudera, James
dc.date.accessioned2020-04-30T10:00:54Z
dc.date.available2020-04-30T10:00:54Z
dc.date.issued1996-04-01
dc.identifier.urihttps://scholars.carroll.edu/handle/20.500.12647/2895
dc.description.abstractThe 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.
dc.subjectCystic fibrosis
dc.titleTesting the Severity of the DeltaF508 Genotype in Patients With Cystic Fibrosis
dc.typethesis
carrollscholars.object.degreeBachelor's
carrollscholars.object.departmentLife & Environmental Sciences
carrollscholars.object.disciplinesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetics; Genetics and Genomics
carrollscholars.legacy.itemurlhttps://scholars.carroll.edu/lifesci_theses/152
carrollscholars.legacy.contextkey11349708
carrollscholars.object.seasonSpring
dc.date.embargo12/31/1899 0:00


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record