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Estimation Of The Incidence Of A Rare Genetic Disease Through A Two-Tier Mutation Survey, R Chakraborty, M R Srinivasan, S Raskin

Student and Faculty Publications

Recent attempts to detect mutations involving single base changes or small deletions that are specific to genetic diseases provide an opportunity to develop a two-tier mutation-screening program through which incidence of rare genetic disorders and gene carriers may be precisely estimated. A two-tier survey consists of mutation screening in a sample of patients with specific genetic disorders and in a second sample of newborns from the same population in which mutation frequency is evaluated. We provide the statistical basis for evaluating the incidence of affected and gene carriers in such two-tier mutation-screening surveys, from which the precision of the estimates …

The Tight Skin Mouse: Demonstration Of Mutant Fibrillin-1 Production And Assembly Into Abnormal Microfibrils, Cay M. Kielty, Michael Raghunath, Linda D. Siracusa, Michael J. Sherratt, Reiner Peters, C. Adrian Shuttleworth, Sergio A. Jimenez

Selected Works of Sergio Jiménez, MD, MACR

Mice carrying the Tight skin (Tsk) mutation harbor a genomic duplication within the fibrillin-1 (Fbn 1) gene that results in a larger than normal in-frame Fbn 1 transcript. In this study, the consequences of the Tsk mutation for fibrillin-containing microfibrils have been examined. Dermal fibroblasts from Tsk/+ mice synthesized and secreted both normal fibrillin (approximately 330 kD) and the mutant oversized Tsk fibrillin-1 (approximately 450 kD) in comparable amounts, and Tsk fibrillin-1 was stably incorporated into cell layers. Immunohistochemical and ultrastructural analyses of normal and Tsk/+ mouse skin highlighted differences in the gross organization and distribution of microfibrillar arrays. Rotary …

Genetic And Molecular Analyses Of Host Symbiotic Genes And An In Vitro Regeneration System For Cicer Arietinum L, Vijayashri Ganapathy Paruvangada

Doctoral Dissertations

Ineffectively nodulating plant mutants PM405B, PM638A, and PM796B were used in molecular/genetic analyses of root nodule formation in chickpea. To establish the mode of inheritance of the mutant nodule phenotype in chickpea mutant PM638A, reciprocal crosses were made between PM638A and wild-type ICC640. The F$\sb2$ segregation data fit a 3 mutants: 1 wild-type monohybrid phenotypic ratio, indicating that ineffective nodulation is due to a monogenic dominant, nuclear mutation, tentatively designated as "Rn$\sb7$". Segregation analysis of F$\sb3$ progeny confirmed this model.

Early (ENod2) and late (Lb) nodulin cDNAs were used as heterologous probes to identify and study the expression of corresponding …

Regulation Of The Yeast Transcriptional Activator Adr1, W James Cook

Doctoral Dissertations

Glucose repression of the ADH2 gene from Saccharomyces cerevisiae is mediated by the abundance and activity of the transcriptional activator ADR1. The focus of this dissertation is to characterize the mechanisms by which glucose controls the ability of ADR1 to activate ADH2 transcription.

Glucose results in a two-fold decrease in the steady state levels of ADR1 mRNA. This glucose-dependent reduction in steady state ADR1 mRNA was shown to be due to an increased rate of ADR1 mRNA degradation. The unusually long, 510 nucleotide 5$\sp\prime$ untranslated region of the ADR1 mRNA appeared to mediate this glucose-dependent ADR1 mRNA decay.

To better …

Characterization And Inheritance Of The Fused Vein Trait In Squash (Cucurbita Pepo L), Robert Bruce Carle

Doctoral Dissertations

This investigation characterized and determined the inheritance of the fused vein trait in Cucurbita pepo L. with the purpose of evaluating its use as a rouging marker for hull-less seeded cultivars.

The trait is characterized by the partial fusion of the primary leaf veins. There is a reduction in the intraveinal leaf blade and the dorsal leaf surface appears wrinkled. Depending on genetic background, fusion begins with the fourth to tenth leaf stage and continues throughout vegetative growth. The extent of fusion also varies from slight (1-5 cm) to pronounced (15-20 cm). Anatomically, fusion results from an interruption of vein …

The Genetic Effects Of Forest Fragmentation On Amazonian Forest Birds., John Marshall Bates

LSU Historical Dissertations and Theses

I present allozyme and mitochondrial DNA (mtDNA) data on the genetic structure of five species of Amazonian forest birds at two geographic scales. The five species, Glyphorynchus spirurus (family Dendrocolaptidae), Leptopogon amaurocephalus (Tyrannidae), Hypocnemis cantator, Myrmeciza hemimelaena, and Hylophylax poecilinota (all three Formicariidae), are common forest understory inhabitants throughout much of Amazonia. At the local geographic scale, I hypothesized that forest fragmentation affected genetic structure in these species. Study sites were in the Department of Santa Cruz, Bolivia. Six sites separated by 150 km or less for each species were sampled: three sites in continuous Amazonian forest, and three in …

Isolation And Characterization Of A Genetic Locus Involved In Growth And Pathogenicity On Tomato Plants By Pseudomonas Syringae Pv Tomato, Dennis Paul Jackson

Digitized Theses

Pseudomonas syringae pv. tomato is the causal agent of bacterial speck on tomato. An essential feature of this organism, in the pathogenic process, is its ability to enter the intercellular spaces of its host and use the available plant substrates for growth. Tomato leaves contain quantities of carbon energy in the form of carboxylates. A Tn5 mutant, DC3481, cannot utilize carboxylates as a source of carbon energy for growth (CA{dollar}\sp-{dollar}) and is nonpathogenic (Path{dollar}\sp-{dollar}) on tomato. The focus of this thesis was to utilize DC3481 to isolate and characterize P. syringae pv. tomato DNA sequences involved with growth and pathogenicity …

Protecting Biodiversity: Recognizing International Intellectual Property Rights In Plant Genetic Resources, Rebecca L. Margulies

Michigan Journal of International Law

Accelerating deforestation in many tropical countries with the concomitant loss of plant species diversity incites increasing international concern. Until very recently, international environmental law tended to regard natural plant species as a "common heritage," a universal resource immune to private property claims. This common heritage approach to the problem of biodiversity loss has left the majority of plant species in a jurisprudential void, unprotected by property rights and subject to conflicting claims by countries with divergent goals. Unrelieved economic pressures force impoverished peoples in species-rich developing nations to resort to activities that ravage the forests, and the tragedy of biodiversity …

Genetic Population Structure Of A Species Complex Of Blue Mussels (Mytilus Spp.)., Shane Kevin Sarver

LSU Historical Dissertations and Theses

Mussels representing two species (Mytilus trossulus and M. galloprovincialis) were collected from 28 littoral locations on the Pacific coast of the USA, and examined for genetic variation at 15 allozyme loci. Eleven samples from a region of suspected hybridization between the two species were also analyzed for variation in seven shell characters. Analysis of allozyme data by principal components analysis revealed three groups based on first principal component scores, and were identified as M. trossulus, M. galloprovincialis and hybrids. Canonical discriminate analysis of seven shell characters was less successful in separating mussels based on morphological criteria alone. To explore the …

Genetic Algorithms And The Satisfiability Of Large-Scale Boolean Expressions., Thomas A. Bitterman

LSU Historical Dissertations and Theses

The two new genetic methods overpopulation and bitwise expected value are introduced. In overpopulation a temporary population of size Mn (M $>$ 1) is created using genetic operators and the n children with the highest estimated fitness values are selected as the next generation. The rest are discarded. Bitwise expected value (bev) is the fitness estimation function used. Overpopulation and bitwise expected value are applied to the NP-complete problem 3SAT (a special form of Satisfiability in which the boolean expression consists of the conjunction of an arbitrary number of clauses where each clause consists of the disjunction of 3 …

Carbon Allocation In Aspen Clones Varying In Ozone Sensitivity, M.D. Coleman, R.E. Dickson, J.G. Isebrands, D.F. Karnosky

Aspen Bibliography

No abstract provided.

Genomic Characterization Of Steroid Hormone-Binding Globulins, D Alan Underhill

Digitized Theses

Sex-hormone binding globulin (SHBG) and corticosteroid binding globulin (CBG) are the major plasma transport proteins for sex-steroids and glucocorticoids, respectively, and may impact directly upon steroid hormone bioavailability to target cells. Androgen binding protein (ABP) is closely related to SHBG and is believed to maintain an androgenic environment for sperm maturation. The isolation of SHBG-related cDNAs from human testis and a corresponding transcription unit indicates that SHBG and ABP are encoded by the same gene. In addition, the SHBG/ABP gene gives rise to two novel testicular transcripts through a process of alternative splicing. The putative proteins encoded by these transcripts …

Charles Birch: Synthesis And Hope, Rowan Cahill

Rowan Cahill