Spelling suggestions: "subject:"polymorphism."" "subject:"olymorphism.""
81 |
Molecular and population genetic analyses of variation within and surrounding the human lactase geneHollox, Edward John January 2000 (has links)
No description available.
|
82 |
Computer simulation of protective coloration with human predatorsGlanville, Philip William January 1998 (has links)
No description available.
|
83 |
Genetic Determinants of Carbohydrate ConsumptionEny, Karen M. 15 February 2011 (has links)
Background: There are a number of biological pathways that affect our ingestive behaviours, including energy homeostasis, food reward, and taste. Given that carbohydrates such as sugars, provide energy and a sweet taste, examining candidate genes in each pathway may help explain differences in carbohydrate consumption behaviours.
Objective: To determine whether variations in genes encoding a glucose transporter (GLUT2), a dopamine receptor (DRD2), and sweet taste receptor (TAS1R2) are associated with differences in sugar consumption in two distinct populations.
Methods: Population 1 included diabetes-free young adults where dietary intake was assessed using a one month 196-item food frequency questionnaire (FFQ). Population 2 consisted of individuals with type 2 diabetes. Dietary intake was assessed using 3-day food records administered 2 weeks apart; food record 1 (FR1) and 2 (FR2). Subjects were genotyped for the Thr110Ile variation in GLUT2 (n1=587; n2=100), the C957T variation in DRD2 (n1=313; n2=100), and the Ser9Cys and Ile191Val variations in TAS1R2 (n1=1037; n2=100) using real-time PCR.
Results: In comparison to individuals homozygous for the GLUT2 Thr allele, consumption of sugars was higher among Ile carriers in population 1 (133 ± 5 vs 118 ± 3 g/d, p=0.006) and population 2 on two separate food records (FR1: 112 ± 9 vs 87 ± 5 g/d, p=0.02; FR2: 105 ± 8 vs 78 ± 4 g/d, p=0.002). For the C957T variation in population 1, we detected a significant DRD2xSex interaction with the consumption of sucrose decreasing with each T allele among men (p=0.03) and a heterosis mode of inheritance among women where heterozygotes consumed the most (p=0.01). For TAS1R2, we detected a significant TAS1R2xBMI interaction and among overweight individuals, carriers of the Val allele consumed less sugars than those with the Ile/Ile genotype (103 ± 6 vs122 ± 6 g/d, p=0.01). In population 2, carriers of the Val allele consumed less sugars than individuals with the Ile/Ile genotype (83 ± 6 vs 99 ± 6 g/d, p=0.04) on FR2.
Conclusions: Our findings demonstrate that genetic variation in GLUT2, DRD2 and TAS1R2 affect habitual sugar consumption and suggest that selection of dietary sugars can be influenced by different biological pathways.
|
84 |
Implementing Overloading and Polymorphism in CforallBilson, Richard C. January 2003 (has links)
The programming language Cforall extends the C language with, among other things, overloading, parametric polymorphism, and functions that can return multiple values from a single call. This thesis presents an outline of the first implementation of the core Cforall language. An effective implementation of Cforall requires complete support for new language constructs while preserving the behaviour and efficiency of existing C programs. Analyzing the meaning of Cforall programs requires significantly more sophisticated techniques than are necessary for C programs; existing techniques for the analysis of overloading and polymorphism are adapted and extended to apply to Cforall. Three strategies for generating code for polymorphic programs are compared, using plain C as an intermediate representation. Finally, a realistic Cforall program is presented and characteristics of the generated C code are examined.
|
85 |
Effect of high pressure on structural odditiesJohnstone, Russell D. L. January 2010 (has links)
This thesis describes the effect of pressure on crystal structures that are in some way unusual. The aim was to investigate whether pressure could be used to force these ‘structural oddities’ to conform to more conventional behaviour. In many cases pressure-induced phase transitions were observed, and the driving forces of these are considered. L-serine monohydrate crystallises with layers of hydrogen bonded serine molecules. Layers are linked together by H-bonds from the donor atoms of water molecules. The orientation of the water molecules between the layers is uncommon for other layered hydrates in the CSD. A single crystal of serine hydrate undergoes a pressure-induced phase transition at 5 GPa, which is characterised by a rotation of the water molecules to an orientation which is more frequently observed. PIXEL calculations show that the transition is driven by the PV term in the equation G = U - TS + PV. An attempt to reproduce the transition in another layered hydrate with a similar topology was partially successful in the compression of S-4-sulfo-L-phenylalanine monohydrate, which undergoes a similar phase transition at 1 GPa. Methyl 2-(9H-carbazol-9-yl)benzoate crystallises unusually with eight molecules in the asymmetric unit (Z’ = 8). Compression of a single crystal results in a phase transition at ca. 5 GPa to give a Z’ = 2 polymorph. The PV term is an important contributor to the driving force of the transition. The geometries of the molecules in phase-II are significantly less stable than in phase-I, and as pressure is released on phase-II the need to adopt a more stable molecular conformation eventually outweighs the PV advantage. The Z’ = 8 structure is eventually re-established at 4.6 GPa. This work illustrates how low Z’ polymorphs of the same structure are not always the thermodynamically more stable forms. When recrystallised in situ from a 4:1 by volume solution of methanol and ethanol, a new polymorph of salicylamide is obtained at 0.2 GPa. The ambient pressure phase appears in the CSD to contain a number of abnormally short H…H contacts. We find this model to be incorrect, and have re-determined the structure to find no short H…H contacts. PIXEL and DFT calculations indicate that the high-pressure polymorph is favoured over the ambient phase by the PV term, the zero point energy and entropy. Low completeness that often occurs as a result of shading from the high-pressure cell was improved by the inclusion of multiple crystals within the sample chamber. Bianthrone changes colour from yellow to green on grinding, though this does not occur when subjected to hydrostatic pressure to 6.5 GPa. There is, however, a subtle colour change from bright yellow to dark orange as pressure is applied, and it is likely that this is caused by changes in the - stacking distances. This work highlights how a system can react differently to hydrostatic and non-hydrostatic conditions.
|
86 |
Polymorphism in small organic compoundsBudd, Laura Elizabeth January 2010 (has links)
The effect of temperature on the crystal structure of deuterated piperidine has been studied using neutron powder diffraction. Differential scanning calorimetry indicates that there are multiple phases accessible via changes in temperature however there is no evidence of this in the neutron powder diffraction study with only one phase observed in the range 2 – 250 K and under various crystallisation conditions. The effect of pressure up to 2.79 GPa has also been determined. The compression of the structure is facilitated through the closing up of voids in the structure and no phase transition is observed. Differential scanning calorimetry has shown N-methyl and N,N-dimethylformamide both exhibit a thermal event prior to melting. Low temperature neutron powder diffraction has shown these transitions are associated with the onset of methyl group rotation. Neutron powder diffraction studies show formamide exhibits remarkable polymorphism at ambient temperature and pressures between 0.1 GPa and 3.6 GPa, forming four new polymorphs. All the structures consist of N-H…O hydrogen bonded chains. The formation of the various polymorphs can be rationalised in terms of the orientation of the molecules within the hydrogen bonded chains and the resultant structures formed by further hydrogen bonds between the chains. This is in stark contrast to the effect of varying conditions of temperature where only one structure exists from 2 K right up to the melting point. The effect of temperature on the crystal structure of pyrazine in the range 8 – 315 K is described. At temperatures below 90 K the structure undergoes a phase transition to a previously uncharacterised phase, designated phase IV, which is closely related to the previously known phase I. The crystal structure of phase III has been determined at 315 K. The crystal structure of pyrazine has been determined at room temperature at pressures between 0.11 GPa and 9.36 GPa. At 0.94 GPa a transition from phase I to phase IV is observed. This is the same phase as observed at low temperatures. Crystal growth at 215 K results in the formation of two different phases of mesitylene; phase II and a new previously unknown phase designated phase IV. The structure of phase IV has been determined and found to be stable in the range 90 – 221 K. On cooling a crystal of deuterated mesitylene in phase II to 90 K a transition to phase III was observed and the resultant crystal structure is closely related to that of phase II.
|
87 |
Y-specific restriction fragment length polymorphisms In Southern African populations.Spurdle, Amanda B January 1992 (has links)
A thesis submitted to the Faculty of Medicine University of the Witwatersrand, Johannesburg fulfilment of the requirements for the degree of Philosophy / Seven Y chromosome probes and thirteen restriction enzyme digests were used to examine a conservative estimate of 20000bp, and no new Y-specific polymorphisms were revealed by these systems. The Y chromosome probe 49a, which reveals a Y-specific haplotype with TaqI, was shown to reveal five new complex polymorphisms with Bglll, Hindlll, Pst I, PvuII and Sstl. The new polymorphisms exhibit great genetic diversity, and each enzyme reveals numerous haplotypes, which mostly occur infrequently and are population-specific. The haplotypes for a given enzyme do not correlate strictly with those revealed by the other enzymes, including TaqI, suggesting that each polymorphism results from a combination of restriction site mutations and rearrangement events. Association between the different 49a polymorphisms occurs only in individuals of recent common genetic origin.
Y-specific 49a/TagI haplotypes were determined for 933 individuals drawn from 23 different African populations. A total of 31 new haplotypes were observed, some of which contained new alleles or allelic variants. Duplication, in addition to CpG mutation, is implicated in the generation of certain allelic variants. Cluster analysis of genetic distances
between populations was calculated using the 49a/TagI haplotype frequencies. Y-specific 49a/TagI haplotype analysis of individual populations was not sufficiently sensitive to accurately distinguish between the different Bantu-speaking Negroid tribal groups. Cluster analysis of larger groupings was more stable, and with the exception of the Khoisan, resulted in a basic split between African and non-African populations.
The linkage disequilibrium of the XY275 MspI Y-linked polymorphism was determined. The high allele was generally found in association with the Y chromosome, but the Y-associated low allele was found to occur in Bantu-speaking Negroids, Khoisan-speaking Negroids, the Khoisan, two groups of mixed ancestry, and the Caucasoid South African Asiatic Indian population. The discovery of Y-associated low alleles in non-African as well as African populations suggests that more than one Y chromosome gave rise to the present-day non-African population.
The pDP31/EcoRI, p21Al/TagI and Y Alu polymorphisms were also studied in several southern African populations. The pDP31 duplication occurred at high frequencies in Caucasoids, and could be used to indicate Caucasoid male gene flow into hybrid populations. The p21Al/TagI point mutation showed no
distinct trends in frequency in the different populations, and several Taql mutations are proposed to have occurred in the repeat unit recognized by this sequence. The Y Alu polymorphism occurred infrequently in Caucasoids, at intermediate frequency in the Khoisan, and at high frequency in Negroids. The presence of the Y Alu insertion in all three major population groups studied is interpreted to suggest that the insert predates the diversification of Homo sapiens.
The relationship between the different Y-linked polymorphisms was determined in the populations studied. The Y Alu polymorphism is believed to have originated once from sequencing data, but such information is not available for the other Y polymorphisms studied. No absolute relationship was observed between the Y Alu polymorphism and the 49a/TagI, XY275 Mspl, pDP31/£coRI and p21Al/TagI polymorphisms. It is suggested that the latter polymorphisms have arisen more than once. / WHSLYP2017
|
88 |
Variable number of tandem repeat polymorphisms of man in Southern Africa.Marques, Isabel Maria January 1992 (has links)
A thesis submitted to the Faculty of Medicine, University of the Witwatersrand, Johannesburg, in fulfilment of the requirements for the degree of Doctor of Philosophy / Two classes of hypervariable loci, VNTRs and (CA)n repeats, represent a rich source of highly polymorphic markers in the human genome. The main objective of this study was to assess their usefulness in elucidating the relationships between 17 southern African populations and to assess the feasibility of paternity testing using these hypervariable markers in the local context. / WHSLYP2017
|
89 |
Anthropometric, biochemical and genetic factors associated with blood pressure. / CUHK electronic theses & dissertations collection / Digital dissertation consortiumJanuary 1999 (has links)
Graham Neil Thomas. / Thesis (Ph.D.)--Chinese University of Hong Kong, 1999. / Includes bibliographical references (p. 245-281). / Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Electronic reproduction. Ann Arbor, MI : ProQuest Information and Learning Company, [200-] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Mode of access: World Wide Web. / Abstracts in English and Chinese.
|
90 |
Tailoring the physical properties of energetic materialsWard, Daniel W. January 2017 (has links)
Energetic materials are a class of material that have large amounts of chemical energy stored within their molecular structure. This energy is released upon decomposition, generally in the form of rapidly expanding, hot gases. They are therefore used for a wide range of applications such as; mining, military, and space exploration, and there is therefore a strong desire to improve the overall performance and safety of such materials. On account of reduced sensitivity to initiation by shock and impact, 2,4-dinitroanisole (DNAN) is a potential replacement for 2,4,6-trinitrotoluene (TNT) in melt-cast formulations for military applications. However, up to 15 % irreversible growth of DNAN has been previously observed upon thermal cycling and is a key reason why DNAN has not yet been universally accepted as a replacement for TNT. DNAN exhibits a complex system of polymorphism. One particular transition from DNAN-II to DNAN-III, which occurs at 266 K, has been observed in these studies to cause 8 - 10 % growth of DNAN-II pellets when temperature cycled for 30 cycles between 256 K and 276 K. What was even more concerning was the appearance of cracking of DNAN pellets after being temperature cycled. Doping the crystal structure of DNAN-II with related molecules, such as 2,4-dinitrotoluene or 2,4-dinitroaniline, was investigated in order to probe how steric and electronic factors affect the transition. The addition of varying amounts of 2,4-dinitroaniline suppressed this transition to varying extents and ultimately as low as 150 K with 10 mol% 2,4-dinitroaniline, and potentially eliminated entirely. This doped material has been designated as phase-stabilised DNAN (PS-DNAN). Temperature cycling of PS-DNAN was conducted over the same 256-276 K range, and this material showed no evidence of irreversible growth compared to undoped DNAN pellets, on account of suppression of the II-III transition. The production of PS-DNAN is therefore a possible route to avoiding problematic irreversible growth in DNAN formulations. Melt-casting of DNAN in a sealed environment consistently results in the metastable form-II, which has proven to be stable for in excess of 32 weeks. However, exposure to seeds of form-I, either via deliberate or accidental seeding, rapidly converted the material to the thermodynamically more stable form-I. This transition was accelerated by increasing temperature which rapidly converted pellets of DNAN-II to DNAN-I. When DNAN-I pellets were temperature cycled, they did not undergo a transition to form-III, and as a result did not illustrate irreversible growth. This presents another approach to avoiding problematic growth in DNAN-based materials. Whilst being one of the most widely used oxidisers in propellant formulations, ammonium perchlorate (AP) has several issues; the formation of porous ammonium perchlorate (PAP) can seriously affect the sensitivity of propellants, the hygroscopicity of AP makes handling and manufacture of formulations difficult, and spherical AP exhibits poor binding properties to the polymer binders used in propellant formulations. Several different approaches were taken to combat these issues. Co-crystallisation of AP was attempted in order to produce new AP co-crystals with reduced reactivity towards the formation of PAP. A theoretical based approach using COSMOtherm was used for rapid screening and selection of potential co-formers to be used in lab-based co-crystallisation trials. Co-crystallisation was attempted using multiple stoichiometries and multiple solvents by solvent evaporation, cooling crystallisation, and Resonant Acoustic Mixing methods. Unfortunately no new co-crystals were obtained, presumably on account of the ionic nature of AP which makes co-crystallisation difficult. The mass of untreated AP increased by 0.027% in a humid environment (90% RH) due to the uptake of water, which resulted in significant caking and hence hindering the processability of AP. In an attempt to counteract the hygroscopicity and improve the processability of AP, particles of AP were coated in graphene nanoplatelets using the technique of Resonant Acoustic Mixing. Low mixing energy (G-force) (30 G) resulted in poor coating of AP, but the flowability of this mixure after exposure to moisture was significantly enhanced, most probably as a result of graphene acting as an effective lubricant. Higher mixing energy (90-100 G) was required to break up agglomerates of graphene nanoplatelets and resulted in AP particles efficiently coated with graphene (APGR). Differential scanning calorimetry showed that the energy released upon decomposition of APGR was greater than pure AP, or AP mixed with graphene, due to the intimacy of the AP particle surface and the graphene coating.
|
Page generated in 0.0419 seconds