Date of Award:

5-1-1984

Document Type:

Dissertation

Degree Name:

Doctor of Philosophy (PhD)

Department:

Biology

Department name when degree awarded

Biology

Committee Chair(s)

Eldon J. Gardner

Committee

Eldon J. Gardner

Committee

John Simmons

Committee

Don Sissions

Committee

Reed Warren

Committee

Ray White

Abstract

The purpose of this study was to identify persons at risk for polypoid disease by pedigree and cell culture analysis. A new investigation of the solitary polyp family, Kindred 133 was completed and familial polyposis families, Kindreds 353 and 409, were added to ongoing investigations of Gardner syndrome and familial polyposis coli. Approximatly 130 cell cultures were established from patients at risk and their unaffected sibs. Chromosome analysis showed high levels of random karyotype instability. Sister chromatid exchange analysis demonstrated no statistical difference between affected and unaffected patients in response to challenge by mitomycin-C. Cell cycle analysis by flow cytometric methods indicated an aberration in the synthesis/ G2 stage of the cell cycle. Cell culture analysis supported the diagnosis of patients determined at risk by pedigree studies. A combination of tests identified individuals actually carrying the defective gene for either Gardner syndrome or familial polyposis coli. A new hypothesis for the genetic mechanism operating in polypoid disease is presented. Preliminary molecular investigations designed to test the hypothesis are in progress.

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