No description available.

Ammonium has been detected in and around several epithermal Au-Ag deposits, including those in Nevada, Japan, Argentina, Mexico, and New Zealand, using short-wave infrared (SWIR) reflectance spectroscopy. This study examined the distribution and occurrence of ammonium in three epithermal low-sulfidation vein-type deposits in the Hauraki goldfield of New Zealand: Martha (>6.7Moz Au, >42.1Moz Ag), Favona (>0.6Moz Au, >2.36Moz Ag), and the recently discovered Wharekirauponga (WKP; 0.42Moz Au, 0.8Moz Ag) deposit. The Martha and Favona auriferous quartz-adularia veins are hosted by late Miocene to Pliocene andesite, whereas auriferous veins at WKP are hosted by late Miocene to Pliocene rhyolite. The wallrock of all three deposits is altered to form quartz, illite, smectite, adularia, chlorite, and pyrite +/- kaolinite. Ammonium contents are enriched (>137 ppm) in wallrock samples from all three deposits and low (<94 ppm) in vein samples. Ammonium contents are higher at Favona (<10,675 ppm) than at Martha (<192 ppm) and WKP (<2,783 ppm). Leaching experiments using a 2N KCl solution show that most ammonium is in mineral structures (>90% at Favona, >80% at Martha, >70% at WKP). There is a positive correlation of ammonium contents with LOI (0.6 – 16.3 wt%) and with K2O (1.3 – 8.0 wt%) in all samples which suggest a hydrous potassium mineral as the major host of the ammonium. This is supported by the SWIR data obtained by previous workers of these samples where they show an absorption at ~1410 nm due to OH. At Favona, samples with high ammonium (>990 ppm) are reported to have significant absorption at ~2000 nm and ~2100 nm in the SWIR spectra likely due to ammonium. High ammonium contents (990 – 10,675 ppm) are found in rocks less than ~100m from the Favona vein which occur within an ammonium-bearing zone identified by previous workers based on SWIR. Samples outside of this zone contain low ammonium (107 – 301 ppm) with the smectite altered samples being the lowest. Ammonium contents within the hangingwall (1,827 – 10,675 ppm) of the Favona vein tend to be higher than in the footwall (990 – 4,301 ppm) and are highest within the most intensely illite altered rocks. At WKP, the intensely adularia +/- minor illite altered samples within 100m of the main East-Graben (EG) vein contain low ammonium (<200 ppm). The intensely illite altered samples away from the EG vein (>100m) have higher ammonium contents (200 – 800 ppm). This relationship of high ammonium contents to high illite abundance confirms illite as the major host of ammonium in these deposits. δ15N values for all samples (n=54) including near and far from auriferous veins range from +0.5 to +7.9 ‰, suggesting the derivation of most of the ammonium from the Jurassic greywacke basement or sediments intercalated within the volcanic rocks.

Loss of nitrogen (N) from dairy manure during storage is an issue of economic, environmental, and social concern for farming communities. The lost N 1) decreases the value of manure as a fertilizer and is an economic loss because supplemental inorganic N fertilizer is purchased to meet N needs on farms; 2) produces the potential pollution for water and air systems, thereby damaging the associated ecosystems; 3) causes challenges to human health. Thus, it is vital to manage and use N in an efficient and eco-friendly manner. N mineralization is a pathway in the N cycle, which converts organic N to inorganic N that is more susceptible to loss. The objective of this study was to conduct lab-scale experiments to assess the effects of temperature, manure solids content, using manure seed and autoclave sterilization operation at the start of storage, and storage time on the N mineralization and the associated microbial community during the storage of liquid dairy manure. Manure scrapped from the barn floor of a commercial dairy farm and diluted to make experimental stocks with high (46 to 78 g/L) and low (19 to 36 g/L) total solids (TS), to simulate what is typically transported to the manure storage pit was used. The manure was incubated in the laboratory at three temperatures (10, 20, and 30°C) for two storage periods (60 and 180 days). Manure samples were taken at different storage time for analyses. The results showed that temperature and using sterilization operation at the start of storage had significant effects on N mineralization for both storage periods (p < 0.05). The highest N mineralization rate occurred at 30℃, which rate constant (k) was 0.096 week-1. While, the lowest N mineralization occurred at 10℃, and its corresponding k was 0.013 week-1. The concentrations of mineralized N (Nm) with non-sterilized (R) manure were significantly higher than that with sterilized (R0) manure (p < 0.05). Compared to that with high TS (H) manure, the concentrations of Nm were significantly higher with low TS (L) manure after 180-d storage (p < 0.05). Raw manure augmented with manure seed (MS) had significantly higher Nm than the manure seed only (SO) (p < 0.05). In order to investigate the changes of microbial community in manure, samples were collected on days 0, 30, 90, and 180 for the 180-d storage experiment, and days 0, 30, and 60 for the 60-d storage experiment, and then manure DNA under different condition was successfully extracted from collected samples and used for 16S rRNA sequencing. This study provided a more comprehensive understanding of the impact factors for manure storage, and was expected to clarify the relationship between N mineralization and the associated microbial community. / Master of Science / Loss of nitrogen (N) from dairy manure during storage is rooted in the process of degradation via microbial activities. During storage of dairy manure, up to 60% of N can be lost to the environment (the air, rivers, groundwater, etc.), causing damages such as global warming and water pollution. However, it is challenging to manage and reduce the N lost during manure storage because of lack of comprehensive knowledge of the complex microbial activities in manure storage structures. Thus, the long-term goal of this study is to discern the interactions of the physical, chemical, and microbial processes that affect the N transformation. The generated information will help to mitigate/minimize the loss of nitrogenous gases during storage of dairy manure. The specific objectives included: 1) to evaluate the effects of selected factors (including storage time, temperature, manure solids content, using manure seed and sterilization operation at the beginning of storage) on N mineralization during storage of liquid dairy manure and determine the associated N mineralization rate; 2) to reveal the microbial communities in stored liquid dairy manure under different conditions (listed above). The outcome of this study could be used to refine N mineralization input parameter of manure storage submodules of the process-based models such as Manure DeNitrification-DeComposition model (Manure-DNDC) and Integrated Farm System Model (IFSM) with the goal to improve their accuracy of estimating or accounting for the fate or cycling of N in dairy manure during storage.

[ES] Esta tesis aborda el efecto de la duración de la prueba sobre la eficacia de una nueva 3-fitasa en pollos de engorde y gallinas ponedoras. El calcio y el fósforo son críticos en la nutrición de las aves debido a su participación en diferentes actividades fisiológicas y metabólicas, particularmente en la mineralización ósea. La fitasa microbiana exógena se usa comúnmente en las dietas de las aves para mejorar el efecto nocivo del fitato en el rendimiento de las aves y el medio ambiente, así como para reducir los costos de alimentación. Hay muchas evidencias de la efectividad de la adición dietética de fitasa para mejorar la digestibilidad del fósforo (P) en aves, pero todavía hay inconsistencias entre los estudios sobre los efectos de la fitasa en las diferentes condiciones de estudio. Estas inconsistencias pueden deberse a muchos factores, siendo uno de ellos la duración de los ensayos. En este estudio se persiguieron dos objetivos: 1) Cómo la inclusión dietética de fitasa, a dosis normal y sobredosis, podría afectar la utilización de nutrientes y el rendimiento en gallinas ponedoras jóvenes. 2) Investigar los efectos de reducir el contenido de minerales (Ca y P) y agregar diferentes dosis de una nueva 3-fitasa bacteriana en dietas de pollos de engorde en un experimento a corto y largo plazo. Así, se diseñaron dos experimentos uno en gallinas ponedoras y otros en pollos de engorde. En conclusión, el uso de dietas deficientes en minerales parece provocar cambios digestivos en el uso de minerales, especialmente cuando se usan a largo plazo. Sin embargo, el uso de fitasas comerciales suele realizarse también durante todo el periodo de producción. Esto debe tenerse en cuenta a la hora de evaluar el potencial de una fitasa a nivel comercial. A partir de los resultados de la presente Tesis Doctoral, se derivan las siguientes recomendaciones prácticas: 1. Los ensayos destinados a evaluar los efectos de la fitasa en la utilización de nutrientes deben realizarse a corto plazo, evitando niveles excesivamente bajos de minerales en las dietas (mejor cerca de los niveles en los que se utilizarán comercialmente), para evitar efectos de adaptación digestiva. . 2. Los ensayos dirigidos a evaluar los efectos de la fitasa sobre el rendimiento del crecimiento y la mineralización ósea deben realizarse a largo plazo, para dar tiempo a que su efecto sea relevante. / [CA] Esta tesis aborda l'efecte de la durada de la prova sobre l'eficàcia d'una nova 3-fitasa en polls d'engorde i gallines ponedores. El calcio y el fósforo son críticos en la nutrición de las aves debido a la seva participació en diferents activitats fisiològiques i metabòliques, particularment en la mineralització ósea. La fitasa microbiana exògena s'usa comunament en les dietes de les aves per millorar l'efecte nocivo del fitat en el rendiment de les aves i el medi ambient, així com per reduir els costos d'alimentació. Hi ha moltes evidencias de l'efectivitat de l'adición dietètica de fitasa per millorar la digestibilitat del fòsfor (P) en aves, però encara hi ha inconsistències entre els estudis sobre els efectes de la fitasa en les diferents condicions d'estudi. Aquestes inconsistències poden haver de fer molts factors, essent un d'ells la durada dels assaigs. En aquest estudi es persiguien dos objectius: 1) Cómo la inclusió dietética de fitasa, a dosis normal y sobredosis, podría afectar la utilización de nutrientes y el rendimiento en gallinas ponedoras jóvenes. 2) Investigar els efectes de reduir el contingut de minerals (Ca i P) i agregar diferents dosis d'una nova 3-fitasa bacteriana en dietes de pollos d'engorde en un experiment a curt i llarg termini. Així, s'ha dissenyat dos experiments un en gallines ponedores i altres en polls d'engorde. En conclusió, l'ús de dietes deficients en minerals sembla provocar canvis digestivos en l'ús de minerals, especialment quan s'usa a llarg termini. Sense embargo, l'ús de fitases comercials es farà també durant tot el període de producció. Això s'ha de tenir en compte a l'hora d'avaluar el potencial d'una fita a nivell comercial. A partir dels resultats de la present Tesis Doctoral, es deriven les següents recomanacions pràctiques: 1. Els assaigs destinats a avaluar els efectes de la fitasa en la utilització de nutrients han de realitzar-se a curt termini, evitant els nivells excessivament baixos de minerals a les dietes (més a prop dels nivells en els que s'utilitzaran comercialment), per evitar efectes de adaptació digestiva. . 2. Els assaigs dirigits a avaluar els efectes de la fita sobre el rendiment del creixement i la mineralització òsea han de realitzar-se a llarg termini, per al seu efecte mar rellevant. / [EN] This thesis tackles the effect of duration of the trial on the efficacy of a novel 3-phytase in broilers and laying hens. Calcium and phosphorus are critical in poultry nutrition because of their involvement in different physiologic and metabolic activities, particularly bone and egg mineralization. Exogenous microbial phytase is commonly used in poultry diets to ameliorate the deleterious effect of phytate on bird performance and the environment, as well as to reduce feeding costs. There are many evidences of the effectiveness of dietary addition of phytase in improving phosphorus (P) digestibility in poultry, but there are still inconsistencies among studies on the effects of phytase on the different response criteria studied. These inconsistencies can be due to many factors being one of them the duration of the trials. In this study, two objectives were pursued: 1) To investigate the effects of reducing the mineral (Ca and P) content and adding different doses of a new 3-bacterial phytase in laying hens diets in a short and long-term experiment. 2) To investigate the effects of reducing the mineral (Ca and P) content and adding different doses of a new 3-bacterial phytase in broiler diets in a short and long-term experiment. To this aim, two experiments were designed in laying hens and broilers. In conclusion, the use of mineral-deficient diets seems to cause digestive changes in the use of minerals, especially when they are used in the long term. However, the use of commercial phytases is usually also carried out during the whole production period. This must be taken into account when evaluating the potential of a phytase at a commercial level. From the results of the present Doctoral Thesis, the following practical recommendations are driven: 1. The trials addressed to evaluate the effects of phytase on nutrient utilization must be carried out in the short term, avoiding excessive low mineral levels in diets (better close to the levels at which they will be used commercially), to avoid digestive adaptation effects. 2. The trials addressed to evaluate the effects of phytase on growth performance and bone mineralization must be carried out in the long term, to give time for its effect to be relevant. / Javadi, M. (2022). Effect of Duration of the Trial on the Efficacy of a Novel 3-Phytase in Broilers and Laying Hens [Tesis doctoral]. Universitat Politècnica de València. https://doi.org/10.4995/Thesis/10251/186346

No description available.

The resolution power of single Very Low Frequency (VLF) data and multi-frequency Radiomagnetotelluric (RMT) data in delineating conductive structures typical for the sedimentary cover and crystalline basement in Scandinavia is studied with a view to future developments of the technique to increasing the frequency range into the LW radio band. Airborne and ground VLF data are interpreted and correlated with RMT measurements made on the ground to better understand the resolution power of VLF data. To aid in this understanding single and multifrequency VLF and RMT responses for some typical resistivity structures are analyzed. An analytic model is presented for obtaining unique transfer functions from measurements of the electromagnetic components on board an air-plane or on the ground. Examples of 2D inversion of ground and airborne VLF profiles in Sweden are shown to demonstrate the quantitative interpretation of VLF data in terms of both lateral and depth changes of the resistivity in the uppermost crust. Geothermal resources are ideal targets for Electromagnetic (EM) methods since they produce strong variations in underground electrical resistivity. Modelling of Magnetotelluric (MT) data in SW Iceland indicates an alteration zone beneath the surface, where there are no obvious geothermal manifestations, in between Hengill and Brennisteinsfjoll geothermal systems. It suggests that a hydrothermal fluid circulation exists at depth. It also proves that the MT method, with its ability to map deep conductive features can play a valuable role in the reconnaissance of deep geothermal systems in active rift regimes such as in Iceland. A damped nonlinear least-squares inversion approach is employed to invert Controlled Source Tensor MT (CSTMT) data for azimuthal anisotropy in a 1D layered earth. Impedance and tipper data are inverted jointly. The effects of near-surface inhomogeneities are parameterized in addition to each layer parameter(s). Application of the inversion algorithm to both synthetic and field data shows that the CSTMT method can be used to detect azimuthal anisotropy under realistic conditions with near surface lateral heterogeneities.

Thesis (MSc)--Stellenbosch University, 2012. / ENGLISH ABSTRACT: This study presents results of a detailed geological mapping and structural analysis of auriferous quartz-vein sets of the nine current open-pit operations, of the Siguiri Mining Complex in the northeastern parts of Guinea. The Siguiri Mining Complex is hosted by a low-grade metamorphic, turbiditic succession within the larger Siguiri Basin, which forms part of the Palaeoproterozoic Birimian Supergroup of the Boualé-Mossi domain on the West African Craton. The Siguiri Mining Complex is located in a deeply weathered saprolite profile developed over the monotonous succession of interlayered metapelites and -psammites. In fresh bedrock and core samples, the host succession is mainly made up of quartz-muscovite schists, muscovite-chlorite schists and metagreywackes, with isolated occurrences of intraformational breccias. The main deformation to have affected the metasedimentary succession of the Siguiri Mining Complex can be assigned to a D2 deformational event. D2 structures comprise of north-south trending strike-slip and reverse faults anastomosing around and enveloping open- to tightly folded domains exposed over an area of 12 by 3 km. The geometry, orientation and kinematics of faults and folds suggest that D2 structures formed during progressive deformation in an overall dextral transpressive brittle-ductile shear zone. Structures within the D2 corridor record east-northeast subhorizontal shortening and north-northwest subhorizontal extension. An omnipresent carbonate alteration in form of carbonate-alteration spots testifies to the pervasive, syn-D2 hydrothermal fluid-flow within the sediments. A structurally- and fracture-controlled fluid-flow is evidenced by the abundance of auriferous quartz veins throughout the Siguiri Mining Complex. These quartz veins host the bulk of the gold mineralization. One main and, at least, three minor sets of auriferous quartz veins can be distinguished. The main quartz-vein set shows very consistent easterly to northeasterly trends and steep southerly dips throughout the Siguiri Mining Complex. This orientation is consistent with the dextral transpressive kinematics and strain within the D2 host structure and illustrates the significance of D2 strains for the mineralization. The volumetrically minor vein sets can be shown to be related to different stages of F2 folding and fold amplification. Zones of economic-grade mineralization occur in areas where competent, psammitic units are developed in structural sites of increased dilatancy. Areas of dilatancy are represented by either dilational jog geometries within the overall transpressive structure or zones of pronounced shear-zone subparallel stretch. Jog geometries could be identified in the larger Bidini-Toubani-Sanu Tinti Complex having formed as a result of the anastomosing geometry of the bounding D2 shear zones. In the large Kami Complex, F2 axial culminations and depressions correspond to zones of increased stretch within the D2 transpression zone, delineated by closer vein spacing and the formation of D2 normal faults parallel to the main vein set and normal to F2 fold hinges. The size and extent of the Siguiri Mining Complex suggests that the host D2 transpressive corridor must be assumed to have a significantly larger along-strike continuation, being part of a larger shear zone system related to the accretionary history of Palaeoproterozoic basins and arcs onto the Archaean Man Shield in West Africa. / AFRIKAANSE OPSOMMING: Hierdie studie lewer die resultate voor van 'n gedetailleerde geologiese kartering en strukturele analise van die gouddraende kwarts-aar stelle in die huidige nege oop-groef operasies van die Siguiri Myn Kompleks, in die noordoostelike deel van Guinea. Die Siguiri Myn Kompleks is geherberg deur 'n lae metamorfiese graad turbidiet suksessie in die groter Siguiri Kom, wat deel form van die Paleo-Proterosoïkum Birimian Supergroep van die Boualé-Mossi streek op die Wes Afrika Kraton. Die Siguiri Myn Kompleks is geleë in die diep veweerde saproliet profiel, wat onwikkel het oor die eentonige suksessie van metapeliete en -psammiete. In vars bodemrots en kern monsters is die herberg-gesteente opgemaak uit kwarts-muskoviet skiste, muskoviet-chloriet skiste en metagrouwakte, as ook afgesonderde voorvalle van intraformasie breksies. Die hoof deformasie fase wat die metasedimentêre suksessie van die Siguiri Myn Kompleks geaffekteer het, kan toegeken word aan 'n D2 deformasie gebeurtenis. D2 strukture bestaan uit noord-suid neigende strekkingwaartse verskuiwings en opskuiwings, wat anastomoserend oop- en steil geplooide gebiede omsluit en is oor 'n area van 12 by 3 km ontbloot. Die geometrie, oriëntasie en kinematika van verskuiwings en plooie stel voor dat D2 strukture gevorm het tydens progressiewe deformasie in 'n algemene regse transpressie skuifskeursone, onder brosheid-duktiliteit toestande. Strukture in die D2 gang wys 'n oos-noordoos subhorisontale verkorting en 'n noord-noordwes subhorisontale verlenging. Die alomteenwoordigheid van karbonaat alterasie, in die vorm van karbonaat-alterasie spikkels, getuig van die deurdringende, sin-D2 hidrotermiese vloeistof vloei in die sedimente. Die strukturele- en breuk-beheerde vloeistof vloei is ook duidelik, as gevolg van die oorvloed van gouddraende kwarts-are reg deur die Siguiri Myn Kompleks. Die kwarts-are bevat die grootmaat van die goud mineralisasie. Een hoof, en te minste drie minder belangrike stele van gouddraende kwarts-aar stelle kan uitgeken word. Die hoof kwarts-aar stel wys konstante oostelike to noordoostelike neigings en steil suidelike hellings, reg deur die Siguiri Myn Kompleks. Die oriëntasie is konstant met regse transpressie kinematika en vervorming in die D2 strukture en illustreer die belangrikheid van D2 vervorming vir mineralisasie. Die minder-belangrike aar stelle is verwant aan die verskillende staduims van F2 plooiing en plooi amplifikasie. Sones van ekonomiese graad mineralisasie kom voor in areas waar bevoegde eenhede van psammiete ontwikkel het in strukturele terreine van verhoogde dilatasie. Areas van dilatasie word verteenwoordig deur dilatasie uitwykings in die transpressie strukture of sones van skuifskeur subparalelle verlenging. Uitwykings geometrië kan geidentifiseer word in die groter Bidini-Toubani-Sanu Tinti Kompleks, waar dit gevorm het asgevolg van die anastomoserende geometrie van die D2 skuifskeur sones. In die groter Kami Kompleks kom F2 aksiale kulminerings en depressies voor in sones van verhoogde strekking binne-in die D2 transpressie sone en word uitgebeeld deur nader aar-spasiëring en die formasie van D2 afskuiwings, parallel aan die hoof kwarts-aar stel en normaal met betrekking tot die F2 plooi-skarniere. Die groote en omvang van die Siguiri Myn Kompleks stel voor dat die D2 transpressiewe gang nog n groter voorsetting het, en vorm deel van 'n groter skuifskeur sisteem en is verwant aan die anngroeings geskiedenis van die Paleo-Proterosoïese komme en boë aan die Argeïese Man Skild in Wes Afrika.

This is a study of the supergene mineralogy of the San Xavier West mine located in the Pima mining district, Pima County, Arizona. The number and composition of secondary species collected are found to be closely related to the relative amounts of the various primary minerals and to the manner in which they were emplaced in the host rock. Supergene mineral species were selected that appeared to be in equilibrium with their environment, and certain assumptions are made concerning the stability fields of these minerals. The equilibrium conditions in most cases can be narrowed and often closely defined by combining the stability fields of several secondary minerals. On this basis, two acid environments and one alkaline environment are found to exist and are separable on the basis of mineralogy. The fields of chalcanthite and melanterite define a highly acid environment while those of goslarite and malachite define an environment of lower acidity. The association of calcite, rosasite, hemimorphite, and malachite indicate an alkaline environment. The acidity of the environments is principally determined by the amount of pyrite present, and pH may be lower than 3 if pyrite is abundant and reactive carbonate material lacking. Also, knowledge of stability relations allowed the history of enrichment and subsequent oxidation to be followed in a case where a transitional species had been removed from reaction by inclusion with gypsum.

Mildly metamorphosed Cretaceous siltstones, arkoses and limey shales and a small composite stock of granitic composition are the principal rocks exposed in the Sedimentary Hills area, which lies six miles west of Tucson, Arizona. About 2400 feet of sediments were measured and assigned to the Amole Arkose Formation. The beds dip to the south and strike northwesterly. The stock is composed of two granitic facies. The northern and earlier part of the stock is a quartz monzonite which is mildly altered. The southern part of the intrusive is a granite porphyry which is altered to a greater degree and exhibits significant disseminations of chalcopyrite and pyrite. A quartz-pegmatite plug, probably a late phase of the intrusions, intrudes the quartz monzonite. Structure in the area is dominated by a large thrust zone which strikes generally parallel to the bedding. Within the Sedimentary Hills area, normal faulting and drag folding are tributary to the thrusting. Minor copper oxide minerals are frequent along large and small faults, and in the granite porphyry stock. Wide brick-red and brown gossans occur along the major thrust plane.

Osteogenesis imperfecta (OI) is a heterogeneous disease of connective tissue, the cardinal symptom being fractures and severity ranging from mild to lethal. Dominant mutations in collagen I, encoded by COL1A1 and COL1A2, cause &gt;90% of cases. To delineate genotype-phenotype correlations and pharmaco-genetic response, collagen I was sequenced in 150 unrelated Swedish families and clinical data were collected in Paper I. Mutation type, gene affected, and N- to C-terminal location correlated with phenotype and severity. Bisphosphonate response assessed by calculated yearly change in lumbar spine bone mineral density (BMD) was inversely related to age and BMD at treatment initiation. Mutations associated with a more severe phenotype exhibited an increased response after 2 years; however, all types of OI responded well. To investigate the effect of naturally occurring variations in collagen I, the only common coding single nucleotide polymorphism (rs42524 in COL1A2) was genotyped in 2004 healthy men in Paper II. Heterozygous genotype was associated with decreased BMD and an increased risk of stroke. An adolescent with repeated fractures despite a markedly high BMD harbored a unique C-terminal procollagen cleavage-site mutation in COL1A1, which motivated extensive investigations in concert with a similar COL1A2 case in Paper III. The probands were found to have impaired procollagen processing, incorporation of collagen with retained C-propeptide in matrix and increased mineral to matrix ratio, which demonstrates that C-propeptide cleavage is crucial to normal bone mineralization and structure. Bisphosphonate therapy has insufficient effect in OI, and as classical OI is a dominant disorder severe cases would benefit from silencing of the mutated allele. In Paper IV and V small interfering RNAs (siRNAs) were used to allele-specifically target primary human bone cells heterozygous for I) a coding polymorphism in COL1A2 and II) insertion/deletions in the 3’UTR of COL1A1 and COL1A2. Results were promising with altered allele ratios and decreased mRNA levels in the predicted fashion. To summarize, this thesis found that collagen I is crucial to bone and connective tissue and that collagen I mutations create markedly diverse phenotypes. Age, BMD and pharmaco-genetic effects influence the response to bisphosphonate therapy in individuals with OI; however, novel approaches are needed. Utilizing allele-specific siRNAs may be a way forward in the treatment of severe OI.