Thesis (Ph. D.)--University of Missouri-Columbia, 2003. / Typescript. Vita. Includes bibliographical references (leaves 57-63). Also available on the Internet.

Thesis (Ph. D.)--University of Chicago, Dept. of Statistics, August 2001. / Includes bibliographical references. Also available on the Internet.

Thesis (Ph. D.)--University of Missouri-Columbia, 2003. / Typescript. Vita. Includes bibliographical references (leaves 57-63). Also available on the Internet.

Thesis (Ph. D.)--Ohio State University, 2002. / Title from first page of PDF file. Document formatted into pages; contains xi, 115 p.: ill. Includes abstract and vita. Advisor: Shili Lin, Dept. of Statistics. Includes bibliographical references (p. 106-115).

published_or_final_version / abstract / toc / Paediatrics and Adolescent Medicine / Doctoral / Doctor of Philosophy

published_or_final_version / Zoology / Master / Master of Philosophy

Nuclear DNA content of the amphidiploid, G. hirsutum, and two closely related diploid species, G. herbaceum var. africanum and G. raimondii, was ascertained by the reassociation kinetics of 250 nucleotide DNA fragments. Between diploid species the difference in chromosome size is attributed largely to variation in repetitive sequences, where there has been a change in both frequency and complexity. The evolution of single-copy DNA sequences by cross hybridizations among species reveals: (1) a high degree of sequence conservation between diploid species, showing 78% duplex formation under standard criterion and 6% sequence mismatch upon thermal denaturation; and (2) greater than 95% duplex formation between the diploid species and the amphidiploid with less than 1% single-copy sequence mismatch. The latter findings are consistent with an early Pleistocene origin for the tetraploid cottons.

No description available.

Clouston hidrotic ectodermal dysplasia (BED) is an autosomal dominant skin disorder that is characterized by nail dystrophy, hair defects and palmoplantar hyperkeratosis. This condition has been described in families of various ethnic origins but is particularly common in the French Canadian population. Using linkage analysis in eight French Canadian families segregating HED, we mapped the HED gene to the pericentromeric region of chromosome 13q with a combined two-point lod score of 8.12 at zero recombination from the marker D13S175. Haplotype analysis allowed us to define D13S143 as the telomeric flanking marker for the HED candidate region. We tested five genes that map to this region, connexin 26, connexin 46, fibroblast growth factor 9, zinc-finger ZNF198 and alpha tubulin TUBA2, for involvement in HED by PCR-SSCP analysis. No mutation specific to HED was found in any of them suggesting that they most likely are not defective in this disease. / To facilitate the identification of the HED gene, we constructed a radiation hybrid (RH) map of 48 loci surrounding the HED locus on chromosome 13q. This map integrates 3 genes (TUBA2, GJbeta2 and FGF-9) and 18 ESTs with 27 markers including 19 polymorphic loci. A major inconsistency in order involving a reversed interval of six loci was found between our RH map and a YAC contig established in the region. We used Fiber-FISH and FISH on interphase nuclei to confirm our order. To refine the localization of the HED gene, we isolated eight new chromosome 13q polymorphic (CA)n markers and used seven of them along with three others in genetic analysis of a multiethnic group of 29 HED families. We demonstrated genetic homogeneity in HED in four families of French, Spanish, African and Malaysian origins and showed evidence for a strong founder effect in families of French Canadian origin. Recombination mapping placed the HED gene in a 2.4 cM region flanked by D13S1828 proximally and D13S1830 distally. Multipoint linkage and linkage disequilibrium analyses finely mapped the HED gene at 0--0.08 cM telomeric to D13S1835. These studies will greatly facilitate the physical mapping and positional cloning of the HED gene.

This thesis takes the DNA molecule and its circulation between scientific researchers as an object of analysis. The study's objective was to investigate the techno-social mechanisms through which certain individual's genetic materials are imputed with research value. Two cases, representing two contrasting kinds of circulation practices, are presented. In the first, DNA samples from families diagnosed with hereditary disorders, which allow researchers a shot at the all-or-nothing game of finding genes, are a protected resource. In the second, the DNA reference panel of the CEPH (Centre d'Etude du Polymorphisme Humain), made up of samples from large multi-generation families, is a widely distributed public resource. The CEPH panel was originally intended for use in genome mapping, but more recently has acted as a technology that aids in the innovation of new techniques and theories. It is argued that the difference in utility (limited or flexible) between these two types of DNA (privately or publicly held) is not found in any inherent property of the samples themselves but rather derives from the extent of the molecule's network of circulation.