Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 22 for “"founder effect"”.
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Identification and Genetic Diversity of Lake Sturgeon Larvae on Artificial Reefs in the Huron-Erie Corridor
… This area in particular has experienced adverse effects over nearly 200 years of human activities, including the removal of spawning habitat to accommodate shipping traffic. Conservation efforts include regulations, endangered species listing, and habitat reconstruction. The creation of …
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Molecular genetics of arrhythmogenic right ventricular and dilated cardiomyopathy in South Africans
… plakoglobin), (2) establish the presence of a founder effect in families with a recurrent mutation in the plakophilin 2 (PKP2) gene, (3) investigate whether single nucleotide polymorphisms found in desmosomal genes affect gene expression, and (4) search for new candidate genes for ARVC in …
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Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene
… has been shown to have arisen due to a founder effect, and a single nucleotide polymorphism (SNP) within ataxin-7 has been linked to the SCA7 mutation in all South African patients genotyped to date. Recently, this SNP has been exploited in a potential allele-specific RNA interference …
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Resolving the 150 year debate over the ecological history of the common periwinkle snail, Littorina littorea, in northeast North America
… L. obtusata..</p><p>Second, I explored genetic founder effect signatures in North American L. littorea. I sequenced a ∼1200 base-pair region of mitochondrial DNA in nearly 400 Europe and North American snails. My results demonstrate a significant reduction in overall genetic diversity in …
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Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study
… has an increased prevalence of the SCA7 due to a founder effect within the black African population. In this study, three distinct but complementary approaches were taken to investigate SCA7 in South Africa, with the aim of estimating the prevalence of the disease, developing improved approaches …
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RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7
… South Africa, than elsewhere in the world, and a founder effect has been demonstrated in South Africa, such that every patient tested thus far is linked to a common ancestor. The manipulation of RNA interference (RNAi) has been used with increasing success to selectively knockdown the expression …
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Novel cell models for the study of spinocerebellar ataxia type 7 pathogenesis and therapy in a South African patient cohort
… the South African population, as a result of a founder effect, makes this disease particularly amenable to allele-specific RNA interference (RNAi)-based therapy. Thus, this study also evaluated the feasibility of these cell models as a vehicle to test previously-developed RNAi therapeutics, …
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Genomics of Lynch syndrome and Constitutional mismatch repair deficiency syndrome
… (ii) to determine if MLH1 c.1528C>T is a founder mutation, and (iii) to focus on the CMMR-D syndrome as a branch of Lynch syndrome and to potentially use the hypermutability-status in CMMR-D to understand the diverse carcinogenesis in Lynch syndrome. Methods: The registry consisting of …
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Invasion Genetics of the Blue Catfish (Ictalurus Furcatus) Range Expansion into Large River Ecosystems of the Chesapeake Bay Watershed
… populations, showing evidence consistent with a founder effect. Lack of evidence for significant bottlenecks combined with high effective migration rates suggested that there may be a great deal more movement of this species within the Bay than was previously thought. Two proposed scenarios for …
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Identification of low-penetrance alleles, genetic modifiers and mutation analysis in familial breast cancer cases
… to those ascertained in Milan, suggesting a founder effect. On the contrary. the <i>SLX4</i> analysis failed to identify any clearly deleterious mutation, excluding a major role of this gene in breast cancer susceptibility in the Italian population. In addition, I genotyped the candidate …
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GENETIC DIVERSITY AND LINKAGE DISEQUILIBRIUM IN WILD SOYBEAN, LANDRACES, ANCESTRAL, AND ELITE SOYBEAN POPULATIONS
Domestication, founder effects, and artificial selection can impact populations by reducing genome diversity and increasing the extent of linkage disequilibrium (LD). To understand the impact of these genetic bottlenecks and selection on sequence diversity and LD within soybean [Glycine max (L.) …
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Alaskan Eskimo and Polynesian Island Population Skeletal Anatomy: The "Pacific Paradox" Revisited Through Surface Area to Body Mass Comparisons
… part of Melanesia. Migration patterns, founder effect through disease frequencies, nutritional effects and cultural traits along with many other issues are presented when examining the similarities and differences the Polynesian population has in comparison to both the Alaskan group and …
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Alaskan Eskimo and Polynesian Island Population Skeletal Anatomy: The "Pacific Paradox" Revisited Through Surface Area to Body Mass Comparisons
… part of Melanesia. Migration patterns, founder effect through disease frequencies, nutritional effects and cultural traits along with many other issues are presented when examining the similarities and differences the Polynesian population has in comparison to both the Alaskan group and …
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Genetic disorders on the island of Mauritius
… and a consequence of either consanguinity or the founder effect, were documented. Karyotyping on selected individuals was undertaken in the laboratories of the Department of Human Genetics, University of Cape Town. A molecular genetic study of a large family with X-linked deafness of Nance, …
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Ecological and evolutionary effects of dispersal on freshwater zooplankton
A recent focus on contemporary evolution and the connections between communities has sought to more closely integrate the fields of ecology and evolutionary biology. Studies of coevolutionary dynamics, life history evolution, and rapid local adaptation demonstrate that ecological circumstances can …
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The molecular genetics of Type 2 diabetes
… mutation in this district is probably due to a founder-effect, by haplotyping affected members of the four pedigrees for GCK1 and GCK2. <br></br><br></br> Chapters 8 and 9 use restriction fragment length polymorphism (RFLP) analysis to detect specific mutations known to create, or remove a …
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Preliminary genealogical evidence for the Plakophilin-2 gene, PKP2 c.1162C>T founder mutation in cases with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
… investigations of the pathogenic PKP2 c.1162C>T founder mutation which had previously been reported to occur within four 'unrelated' probands (6.2%) who selfidentified as Afrikaners and who also carried a common haplotype. Common evolutionary history suggests common haplotypes are linked to a …
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Population genetics of the koala (Phascolarctos cinereus)
… French Island descended from a small number of founders this resulted in a widespread translocation of koalas with low genetic diversity. Koalas are currently threatened by loss of habitat and urbanization due to increasing growth of the human population. The goals of this study were: 1) to …
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The molecular genetics of familial cardiomyopathy
… probands, raising the possibility of a founder effect. In the third and final family with ACM, we identified the pathogenic PKP2 variant as the cause of disease within this family with the novel ALPK3 variant acting as a possible modifier. Our research has added to what is currently …
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Exploring the maintenance of plumage polymorphism in the Black Sparrowhawk
… is non-adaptive and is simply due to a chance founder effect and strong genetic drift and (2) this is reflective of local adaptation and that irrespective of the founding morph ratios, dark morphs have a selective advantage in this newly colonised environment with its novel winter rainfall …
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