Global ETD Search

1	Chromosome breakage studies in Fanconi's anaemia homozygotes and heterozygotes Rosendorff, Jennifer January 2015 (has links) No description available. Franconi's anemia--genetics. Chromosome Aberrations. Heterozygote. Homozygote.
2	Fidelity of heterozygote balance and contributor proportions before and after post-PCR purification of low template two-person mixtures Rajapakse, Thanna 12 March 2016 (has links) Reliable detection of low template DNA (LTDNA) is dependent on reproducible allelic peaks and use of appropriately set thresholds. Analyzing LTDNA at different thresholds than high template DNA samples is discouraged by some scientists [1]. Thus, enhancing LTDNA samples is preferred if thresholds set for high template DNA are maintained for LTDNA samples. Post-amplification purification with the use of silica columns increases peak heights of single source LTDNA, while maintaining heterozygote balances of the sample before purification. LTDNA samples are difficult to interpret due to stochastic effects: allelic dropout and heterozygote imbalance. Interpretation of LTDNA mixtures is even more complex due to allelic sharing between contributors and allelic masking by artifacts. To determine if post-amplification purification of DNA from two-person LTDNA mixtures can improve profile interpretation, variable concentrations and mixture ratios of saliva extracts were applied to Macherey-Nagel NucleoSpin® and Qiagen MinElute® columns. The peak heights and heterozygote balance of two-person LTDNA mixtures were compared before and after purification with each silica column. Contributor proportion and heterozygote balance were not significantly affected by purification, and the peak heights of samples improved with use of either silica column. However, peak heights were higher in samples purified with Qiagen MinElute® columns. Given the higher peak heights, fewer dropouts occurred in samples purified with Qiagen MinElute® columns, but the occurrence of locus dropout reduced after purification with either column. The performance of each silica column was characterized by comparing fold increase and their individual effect on the primer front. The fold increase of samples purified with Qiagen MinElute® columns was higher than samples purified with Macherey-Nagel NucleoSpin® columns, but replicate purifications of Macherey-Nagel NucleoSpin® columns were more precise than replicate purifications of Qiagen MinElute® columns. Samples purified with Macherey-Nagel NucleoSpin® columns removed more primers than samples purified with Qiagen MinElute® columns. Post-amplification purification with silica columns is a useful investigative tool for LTDNA, especially for LTDNA mixtures. Both silica columns increased peak height, maintained contributor proportion, maintained heterozygote balance, and reduced primer front, but the degree of fold increase and reduction in primer front must be considered to facilitate the decision of which silica column to use for post-amplification purification of LTDNA. Due to its precision, Macherey-Nagel NucleoSpin® columns are ideal for LTDNA mixture samples while Qiagen MinElute® columns are ideal for single source LTDNA due to its ability to elevate peak heights. Molecular biology DNA Heterozygote balance Low template Mixture Post-amplification purification
3	Heterozygous Mutant Mice Have a Subtle Locomotor Phenotype Thiry, Louise, Lemaire, Chloé, Rastqar, Ali, Lemieux, Maxime, Peng, Jimmy, Ferent, Julien, Roussel, Marie, Beaumont, Eric, Fawcett, James P., Brownstone, Robert M., Charron, Frédéric, Bretzner, Frédéric 01 March 2022 (has links) Axon guidance receptors such as deleted in colorectal cancer (DCC) contribute to the normal formation of neural circuits, and their mutations can be associated with neural defects. In humans, heterozygous mutations in have been linked to congenital mirror movements, which are involuntary movements on one side of the body that mirror voluntary movements of the opposite side. In mice, obvious hopping phenotypes have been reported for bi-allelic mutations, while heterozygous mutants have not been closely examined. We hypothesized that a detailed characterization of heterozygous mice may reveal impaired corticospinal and spinal functions. Anterograde tracing of the motor cortex revealed a normally projecting corticospinal tract, intracortical microstimulation (ICMS) evoked normal contralateral motor responses, and behavioral tests showed normal skilled forelimb coordination. Gait analyses also showed a normal locomotor pattern and rhythm in adult mice during treadmill locomotion, except for a decreased occurrence of out-of-phase walk and an increased duty cycle of the stance phase at slow walking speed. Neonatal isolated spinal cords had normal left-right and flexor-extensor coupling, along with normal locomotor pattern and rhythm, except for an increase in the flexor-related motoneuronal output. Although mice do not exhibit any obvious bilateral impairments like those in humans, they exhibit subtle motor deficits during neonatal and adult locomotion. CPG DCC receptor (genetics) mice animals heterozygote locomotion (genetics) motor neurons (physiology) phenotype pyramidal tracts Biomedical Sciences
4	Hereditary susceptibility to inner ear stress agents studied in heterozygotes of the German waltzing guinea pig / Skjönsberg, Åsa, January 2006 (has links) Diss. (sammanfattning) Stockholm : Karolinska institutet, 2006. / Härtill 4 uppsatser.
5	Genetic mapping of retinal degenerations in Northern Sweden Köhn, Linda, January 2009 (has links) Diss. (sammanfattning) Umeå : Umeå universitet, 2009. / Härtill 4 uppsatser. Även tryckt utgåva.
6	The Characterisation of Putative Nuclear Pore-Anchoring Proteins in Arabidopsis thaliana Collins, Patrick January 2013 (has links) The nuclear pore complex (NPC) is perhaps the largest protein complex in the eukaryotic cell, and controls the movement of molecules across the nuclear envelope. The NPC is composed of up to 30 proteins termed nucleoporins (Nups), each grouped in different sub-complexes. The transmembrane ring sub-complex is composed of Nups responsible for anchoring the NPC to the nuclear envelope. Bioinformatic analysis has traced all major sub-complexes of the NPC back to the last eukaryotic common ancestor, meaning that the nuclear pore structure and function is conserved amongst all eukaryotes. In this study Arabidopsis T-DNA knockout lines for these genes were investigated to characterise gene function. Differences in plant growth and development were observed for the ndc1 knockout line compared to wild-type but gp210 plants showed no phenotypic differences. The double knockout line gp210 ndc1 was generated through crosses to observe plant response to the knockout of two anchoring-Nup genes. No synergistic affect from this double knockout was observed, suggesting that more, as yet unidentified Nups function the transmembrane ring in plants. The sensitivity to nuclear export inhibitor leptomycin B (LMB) was tested also for knockout lines, although growth sensitivity to the drug was not observed. Nucleocytoplasmic transport of knockout lines was measured in cells transformed by particle bombardment. To express fluorescent protein constructs actively transported through the NPC, localisation of protein determined the nucleocytoplasmic transport of the cell. The ndc1single knockout and the double knockout gp210 ndc1 exhibited decreased nuclear export. Further experiments in determining NDC1 localisation and identification of other Nups in the transmembrane ring sub-complex would bring a more comprehensive understanding to the plant NPC. Arabidopsis thaliana transformation insert transient expression epidermal cells root cells gene protein plant bolting flowering root growth knockout ndc1 gp210 At1g73240 At5g40480 SALK SAIL Columbia seed germination DNA sequencing light microscopy stereo-fluorescence microscopy DNA extraction cell nucleus cytoplasm nucleoplasm nuclear pore complex nucleoporin nuclear envelope putative nuclear pore-anchoring protein leptomycin B gene gun particle bombardment agrobacterium T-DNA fasciation rhodococcus fascians cross reverse genetics nucleocytoplasmic transport cross self synergistic silique transmembrane ring dihybrid pumilo homology domain protein GFP YFP RFP PCR homozygote heterozygote inhibition

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