One of the author's previously published articles is inserted. / Bibliography: leaves 174-191. / xi, 213 leaves, [15] leaves of plates : / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / A clinical and molecular study of patients with unequivocal Marfan sydnrome, or with an undiagnosed connective tissue disorder with some features in common with Marfan syndrome. Presents the phenotype of six Marfan patients with an FBN1 mutation, patients with Shprintzen-Goldberg syndrome or furlong syndrome, and two children with congenital aneurysms. Details the molecular screening of 44% of the FBN1 gene coding sequence for putative mutations. / Thesis (M.D.)--University of Adelaide, Dept. of Paediatrics, 1995

Typescript (photocopy) / xiii, 209 leaves : ill., (1 col.) ; 30 cm. / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / Thesis (Ph.D.)--University of Adelaide, Dept. of Genetics, 1983

Copies of author's previously published articles inserted. / Bibliography: leaves 197-212. / [xv], 212, [85] leaves, [11] leaves of plates : ill. ; 30 cm. / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / Thesis (Ph.D.)--University of Adelaide, Dept. of Biochemistry, 1993

Includes bibliography / 102 leaves, [19] leaves of plates : ill. (some col.) ; 30 cm. / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / Thesis (Ph.D.)--University of Adelaide, 1977

Bibliography: leaves 84-94 / vii, 94, [39] leaves : ill ; 30 cm. / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / Thesis (Ph.D.)--University of Adelaide, 1987

Bibliography: leaves 94-104

The concept of genetic penetrance, "the frequency of manifestation of a genetic factor," was introduced by Timofeef-Ressovsky (Naturwissenschaften 19:493,1931). Incomplete penetrance has been used to explain the absence of phenotypic expression when otherwise anticipated. Studies of Embryonic Chick Edema, ECE (Poultry Sci. 77(suppl. 1):69, 1998) have been conducted in order to determine the origins for incomplete penetrance of this disorder. ECE was originally reported as the expression of two autosomal recessive loci with incomplete penetrance. Pedigreed inter se mating of ECE individuals have resulted in familial incidences ranging for 0 to 100% with a mean of 48.2% in the most recent generation selected. With consideration of a third contributing locus, current data and 2 sets of previous data were evaluated. Heterogeneity and pooled chi square tests when applied to the data sets support the hypothesis that ECE was the result of two completely dominant loci and one homozygous recessive locus. / Graduation date: 2004

Alzheimer’s disease (AD) is one of the common diseases of older people. Although several genes have been identified for Familial Alzheimer’s Disease (FAD), a reliable diagnostic, especially for those patients in their early or intermediate phases of AD, is still not available. There is neither effective treatment nor drugs that can stop or reverse AD progression. Breakthroughs in diagnosis or treatment development likely require understanding of the molecular mechanisms of AD. Studies in FAD have shown that APP, PS1, PS2 and some other genes are related to FAD. Mutations of APP and PS1 lead to amyloid plaque accumulation which is also prominent in Sporadic AD. Transgenic animals closely mimic human AD pathologies in many aspects. A mouse model carrying both APP Swedish mutation and PS1 deltaE9 mutation is used in this study. This mouse model accumulates amyloid plaque rapidly, and the plaque shows up as early as 6 months of age. Using microarrays, we have isolated 176 genes with significant expression changes and 14 turned on/off genes from AD mouse cortex. From this cDNA microarray measurement of global gene expression, several functional groups were regulated significantly in our mouse model of AD pathology. Mt2 and Atp7a were identified and may be candidates for further studies of AD pathology, as well as potential drug targets. Five significant microRNAs were found from AD mouse cortex, providing evidence that microRNAs could play a role in AD. cDNA arrays were also used to identify potential biomarkers from whole blood samples that distinguish AD mice from their non-transgenic littermates. / text

published_or_final_version / Biochemistry / Doctoral / Doctor of Philosophy

published_or_final_version / Pathology / Master / Master of Medical Sciences