Thesis (Ph. D.)--University of Queensland, 2003. / Includes bibliographical references.

The purpose of this research was to examine four selected human population groups, institutionalized and normal, to determine the prevalence of the 47, XYY chromosome abnormality among adult males.

Thesis (Ph. D.)--University of Washington, 1997. / Vita. Includes bibliographical references (leaves [202]-262).

Thesis (M. Ed.)--Kutztown State College. / Source: Masters Abstracts International, Volume: 45-06, page: 3060. Typescript. Includes bibliographical references (leaves 32-34).

No description available.

No description available.

DiGeorge syndrome (DGS) is a developmental defect associated with deletions in chromosomal region 22q11.2. Recently, other syndromes (Velo-Cardio-Facial syndrome, Conotruncal Anomaly Face syndrome, isolated conotruncal cardiopathy) with overlapping phenotypes have been found to be associated with deletions of a similar extent in this chromosomal region. All these syndromes have been grouped under the acronym CATCH 22 (Cardiac defect, Abnormal facies, Thymic hypoplasia, Cleft palate, Hypocalcemia, chromosome 22q11.2 deletions). In order to characterize genetically this group of syndromes, we have searched for deletions in the 22q11.2 chromosomal region by fluorescence in situ hybridization (FISH). A set of 6 cosmid probes dispersed within the whole length of the DGS deleted region was used to screen 23 patients. A 22q11.2 deletion was observed in 96% of the patients studied. Furthermore, there does not seem to exist any correlation between the size of the deletion and the phenotype observed, since the majority of patients studied, although widely divergent in their clinical manifestation of DGS, appeared to present the same extent of deletion in this genomic region. / There appears to be a predominance of deletion-bearing mothers in familial CATCH 22 when published pedigrees are examined. Furthermore, our own familial cases and the sporadic cases where the parental origin of the deletion could be deduced using a chromosome 22 short arm heteromorphisms seem to confirm this tendency. Because we had isolated a CA-repeat locus mapping within the DGS deleted region, the parental origin of the deletion in sporadic DGS/VCFS cases was studied by assessing the inheritance pattern of this microsatellite marker. The deleted portion of chromosome 22 was of maternal origin in 16 out of 22 cases (72%). When cases of sporadic, familial and unbalanced translocation inheritance reported in the literature were pooled with these results, there appears to be a net tendency for the deletions to be of maternal origin in CATCH 22 (70 deletions of maternal origin, 21 of paternal origin, X$ sp2$ = 26.4, p $<$ 0.0001). / In order to identify the molecular defect underlying DGS, we embarked on a positional cloning approach. A detailed physical map of the 22q11.2 region was made using one- and two-color FISH on metaphases and G$ sb0$ interphase nuclei, and by hybridization to a chromosome 22 hybrid panel. This permitted delineation of a critical region, within which the breakpoint of a balanced translocation carrier affected with DGS was mapping. This breakpoint was cloned by the construction of cosmid contigs, and a novel gene mapped to this region was isolated. The gene potentially encodes an adhesion receptor, and is not interrupted by the balanced translocation breakpoint. Possible mechanisms through which this gene can be involved in the pathogenesis of DGS are presented. / This research project has contributed toward the understanding of the genetics of DGS and related syndromes. Furthermore, a candidate gene for the CATCH 22 syndromes has been isolated and further work will confirm whether it plays a major role in the pathogenesis of these syndromes.

No description available.

published_or_final_version / Pathology / Master / Master of Philosophy

This thesis explores the variety of ways in which scientific views of genetic testing are portrayed in the realm of popular culture. As a case study, I have used the identification of the gene for hereditary stomach cancer which occurred in New Zealand in 1998, and was the result of a partnership between the affected whanau and scientists from the University of Otago. Both the empirical and theoretical findings of this project have shown how such accounts are not neutral or transparent. Rather, they are positioned to represent certain values and ideas, and this is even more evident when those affected are Maori. However, considering textual representations of the gene and cancer has revealed the importance of taking into account the fact that these 'things' are also physical and material. I consider the implications of this and consider the ways in which the whanau health workers negotiate the fetishism apparent in biomedicine. Despite its misgivings, biomedicine has immense benefits, some of which the whanau have manipulated and appropriated for their own good, although they do so on their own terms. Despite the many complexities involved in this case study, this is a positive and hopeful story where those involved in the stomach cancer gene project have emerged with improved solutions.