Dissertationen zum Thema „Antigens Analysis Molecular aspects“
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Bianco-Miotto, Tina. „Loss of ABO antigens in haematological malignancies / Tina Bianco-Miotto“. Thesis, Adelaide, S.A, 2002. http://hdl.handle.net/2440/21857.
Der volle Inhalt der QuelleIncludes bibliographical references (leaves 229-251)
xv, 251 leaves : ill. (some col.) ; 30 cm.
Describes the investigation of the alteration of ABH antigen expression on the surface of red blood cells in patients with haematological malignancies.
Thesis (Ph.D.)--University of Adelaide, Dept. of Medicine, 2003
Bianco-Miotto, Tina. „Loss of ABO antigens in haematological malignancies“. Adelaide, S.A, 2002. http://web4.library.adelaide.edu.au/theses/09PH/09phb578.pdf.
Der volle Inhalt der QuelleAdeleye, Tolulope Abiodun. „A molecular analysis of the immunological response to mycobacterial antigens“. Thesis, University College London (University of London), 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.304066.
Der volle Inhalt der QuelleDavenport, Miles Philip. „Molecular analysis of HLA associations with infectious disease“. Thesis, University of Oxford, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.297073.
Der volle Inhalt der QuelleNath, Deepa. „cDNA sequence analysis of macrophage molecules“. Thesis, University of Oxford, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.240654.
Der volle Inhalt der QuelleShipman, Robert Charles. „The molecular characterization of a common human myelogenous leukemia-associated antigen (CAMAL)“. Thesis, University of British Columbia, 1987. http://hdl.handle.net/2429/27530.
Der volle Inhalt der QuelleScience, Faculty of
Microbiology and Immunology, Department of
Graduate
Purins, Leanne Roslyn. „Molecular characterisation of the transcriptional activator, HLYU, of Vibrio cholerae O1 /“. Title page, abstract and table of contents only, 2004. http://web4.library.adelaide.edu.au/theses/09PH/09php9857.pdf.
Der volle Inhalt der Quelle"May, 2004" Includes corrigenda. includes bibliographical references (leaves 118-156).
Wright, Andrew. „Molecular analysis of the human antibody response to antigens of Staphylococcus aureus“. Thesis, University of Sheffield, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.485077.
Der volle Inhalt der QuelleGuy, Rebecca Ann. „Giardia lamblia : an analysis of trophozoite antigens using monoclonal antibodies“. Thesis, McGill University, 1989. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=55696.
Der volle Inhalt der QuelleDaniels, Craig. „Characterisation of proteins involved in Shigella flexneri O-antigen biosynthesis“. Title page, abstract and contents only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phd186.pdf.
Der volle Inhalt der QuelleRamly, Nur Zazarina. „Molecular analysis on the superfamily of surface antigens from the apicomplexan parasite Eimeria tenella“. Thesis, University of Sheffield, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.577790.
Der volle Inhalt der QuelleGadd, Stephen J. „Analysis of acute mycloid leukaemia cell surface antigens with monoclonal antibodies“. Title page, contents and abstract only, 1985. http://web4.library.adelaide.edu.au/theses/09PH/09phg123.pdf.
Der volle Inhalt der QuelleJaworski, Deborah Carol. „Molecular aspects of early-expressed ixodid tick salivary gland antigens with emphasis on host response to tick feeding /“. The Ohio State University, 1991. http://rave.ohiolink.edu/etdc/view?acc_num=osu1487694702782423.
Der volle Inhalt der QuelleMavris, Maria. „Bacteriophage SfII mediated serotype conversion in Shigella flexneri /“. Title page, abstract and contents only, 1998. http://web4.library.adelaide.edu.au/theses/09PH/09phm4608.pdf.
Der volle Inhalt der Quelle彭志明 und Chi-ming Pang. „Molecular analysis of the dehalogenase IVa of Burkholderia cepacia MBA4“. Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1999. http://hub.hku.hk/bib/B31240872.
Der volle Inhalt der QuelleMacpherson, Debbie Freda. „Characterization of the rfb region of Shigella flexneri /“. Title page, abstract and contents only, 1995. http://web4.library.adelaide.edu.au/theses/09PH/09phm172.pdf.
Der volle Inhalt der Quelle黃鳳如 und Fung-yu Huang. „Molecular and cytogenetic analysis of cervical and vulvar cancer“. Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2002. http://hub.hku.hk/bib/B26662188.
Der volle Inhalt der QuelleAlm, Richard A. „Molecular characterization of the haemolysin determinant of Vibrio cholerae O1 /“. Title page, contents and abstract only, 1989. http://web4.library.adelaide.edu.au/theses/09PH/09pha444.pdf.
Der volle Inhalt der QuelleIncludes an appendix of author's previously published papers. Includes bibliographical references (leaves 123-160).
Wang, Yue, und 王悦. „Molecular analysis of mitochondrial DNA alterations in endometrial carcinomas“. Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B32059127.
Der volle Inhalt der QuelleChampion-Suntharalingam, K. M. „Aspects of molecular analysis in myeloproliferative disorders and myelodysplastic syndromes“. Thesis, Anglia Ruskin University, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.342919.
Der volle Inhalt der QuelleBruiners, Natalie. „Molecular genetic analysis of preterm labour“. Thesis, Stellenbosch : Stellenbosch University, 2007. http://hdl.handle.net/10019.1/17741.
Der volle Inhalt der QuelleENGLISH ABSTRACT: The World Health Organisation (WHO) has defined preterm labour as the onset of labour before 37 completed weeks of gestation with an incidence ranging between 5-10%. Although patient care has improved, the rate of preterm birth has slowly been increasing and currently impacts significantly on maternal and fetal mortality and morbidity. The complex condition of preterm labour involves multiple etiologies and risk factors, which complicates the search for candidate markers and / or biomarkers. The aim of this prospective study was to investigate potential genetic associations with preterm labour. The study cohort consisted of consecutive first-time booking, low-risk primigravid pregnant women from a restricted geographical region. The study cohort comprised 421 [306 Coloured and 115 Black] pregnant women presenting at the Paarl Hospital Obstetric clinic. Subsequently, DNA was extracted from whole blood and investigated for a range of known polymorphisms in pro-inflammatory and anti-inflammatory cytokines, as well as the novel LGALS13 gene, for potential variants that may impact on pregnancy outcome. Screening techniques involve combinations of allele-specific PCR amplification, Multiphor SSCP/HD analysis, restriction enzyme analyses and DNA sequencing. A significant association was demonstrated between the IL-1RN*2-allele and adverse pregnancy outcome, mainly in the preterm labour and hypertension group. The presence TNFα-308 A-allele was associated with overall adverse pregnancy outcome and preterm labour. In addition to this, a novel IL-1RN allele was identified in the control group. Mutation screening and subsequent statistical methods revealed an association between a novel LGALS13 exonic variant, 221delT, and preterm labour in Coloured women. Two previouslydocumented intronic variants (IVS2-22A/G and IVS3+72T/A) demonstrated linkage disequilibrium, signifying evolutionary conservation of exon three. Additionally, two novel intronic variants, IVS2-36 G/A and IVS2-15 G/A, demonstrated no association with adverse pregnancy outcome. In this study we identified rare novel exonic variants; two non-synonymous variants in exon three (M44V, [N=2] and K87R, [N=1]) and a silent variant in exon four (P117P, [N=1]) - all identified in individuals from the control cohort. Within coding exon three, an interesting variant [“hotspot”] was identified, which represents six polymorphic bases within an 11bp stretch. No associations were demonstrated with these variants and pregnancy outcome. Furthermore, a previously documented 5' “‘promoter” variant, -98 A/C, was identified and demonstrated no association with adverse pregnancy outcome. However, subdivision of lateonset pre-eclamptic cases revealed a significant association with the A-allele and late-onset preeclampsia. Genotype-phenotype investigation demonstrated association between the IL-10 -1082 A/G, IL-4 C/T and 221delT loci and poor pregnancy progress which manifested as (i) delivery of infants weighing <2000g, (ii) before 37 weeks of gestation. The findings of this study will strengthen our understanding of the pathophysiology underlying pregnancy complications and facilitate the further development of effective treatment strategies to reduce maternal and fetal morbidity and mortality.
AFRIKAANSE OPSOMMING: Die Wêreld Gesondheid Organisasie (WHO) klassifiseer voortydse kraam as kontraksie voor 37 volledige weke, met ‘n insidensie tussen 5-10%. Alhoewel pasiënte-sorg verbeter het, neem die tempo van voortydse geboorte steeds toe, wat ‘n groot impak het op moederstrefte en fetale mortaliteit en morbiditeit. Die komplekse kondisie van voortydse kraam sluit veelvoudige oorsake en risiko faktore in, wat die navorsing van kandidaat en / of biologiese merkers kompliseer. Die doel van hierdie prospektiewe studie, was die potensiële navorsing van genetiese assosiasies met voortydse kraam. Die studie kohort bevat opeenvolgende eerste bespreking van lae risiko primigravida swanger vrouens vanaf ‘n beperkte geografiese omgewing. Die studie kohort beslaan 421 [306 Kleurling en 115 Swart] swanger vrouens teenwoordig by die Paarl Hospitaal Verloskunde kliniek. Vervolgens was DNS geëkstraeer van bloedmonsters en geondersoek vir ‘n verskeidenheid van bekende polimorfismes in pro-inflammatoriese en antiinflammatoriese sitokiene, insluitend die nuwe sifting van die LGALS13 geen potensiaal vir variante wat ‘n impak op swangerskap uitkomste sal hê. Die siftings tegnieke toegepas, sluit in ‘n kombinasie van alleel-spesifieke amplifikasie, Multiphor enkelstring konformasie polimorfisme / heterodupleks analise, restriksie ensiem verterings en volgorde bepalings tegnieke. ‘n Betekenisvolle assosiasie was gedemonstreer tussen die IL-1RN*2-alleel en nadelige swangerskap, beperk tot voortydse kraam en die hipertensie groep. Die teenwoordigheid van die TNFα-308 A-alleel was geassosieer met algehele nadelige uitkomste en voortydse kraam. Daarby, was ‘n nuwe IL-1RN alleel geïdentifiseer in die kontrole groep. Mutasie sifting en opeenvolgende statistiese metodes, het ‘n assosiasie getoon tussen ‘n nuwe LGALS13 koderende variant, 221delT, en voortydse kraam in Kleurling vrouens. Twee voorafbeskryfde introniese variante (IVS2-22 A/G en IVS3+72 T/A), het ‘n betekenisvolle bewys opgelewer dat daar koppelings-onewewig bestaan tussen hierdie variante, en toon evolusionêre konservasie van ekson drie. Addisioneel was twee nuwe introniese variante ontdek, IVS2-36 G/A en IVS2-15 G/A, wat geen assosiasie getoon nie. In hierdie studie het ons ‘n nuwe seldsame koderende variante geïdentifiseer in die kontrole groep, waarvan twee nie-sinonieme variante was in ekson drie (M44V, N=2 en K87R, N=1) en ‘n stil variasie in ekson vier (P117P, N=1). Geleë in die koderende area van ekson drie, was ’n interessante variant [“hotspot’] ontdek, waarvan ses basisse in ‘n 11 basis paar area polimorfies is. Geen assosiasie was getoon met hierdie variante en swangerskap uitkomste nie. Verder was ‘n voorafbeskryfde 5' ‘promotor’ variant, -98 A/C, geïdentifiseer wat geen assosiasie getoon met nadelige swangerskap uitkomste nie. Onderverdeling van laat-aanvangs preeklampsie, het getoon dat die A-alleel ‘n betekenisvolle assosiasie getoon het met die ontwikkeling van laat pre-eklampsie. Genotipe-fenotipe interaksies het ’n assosiasie getoon tussen die IL-10 -1082 A/G, IL-4 C/T en 221delT lokusse en nadelige swangerskap uitkomste, wat manifesteer as (i) kraam van suigelinge wat <2000g weeg, (ii) geboorte voor 37 weke. Die bevindings van hierdie studie sal ons basiese kennis verbeter oor die patologie beskrywend aan swangerskap komplikasies, asook die fasilitering en ontwikkeling van effektiewe behandelings strategieë, om moederstrefte en fetale mortaliteit en morbiditeit te verminder.
李耀華 und Yiu-wah Lee. „Molecular genetic analysis of the polyol pathway in diabetic and galactosemic cataracts“. Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1995. http://hub.hku.hk/bib/B31234276.
Der volle Inhalt der QuelleHigh, Nicola Jane. „A molecular analysis of Escherichia coli cell surface antigens required for the colonisation of the urinary tract“. Thesis, University of Leicester, 1988. http://hdl.handle.net/2381/35385.
Der volle Inhalt der QuelleSchulte, Kathleen Q. „Mutagenized HLA DNA Constructs: Tools for Validating Molecular HLA Typing Methodologies“. Thesis, University of North Texas, 1999. https://digital.library.unt.edu/ark:/67531/metadc500888/.
Der volle Inhalt der QuelleVessey, S. J. R. „A molecular analysis of the T-cell receptor“. Thesis, University of Oxford, 1997. http://ora.ox.ac.uk/objects/uuid:87b560f9-b1d6-4b12-9c94-fd1b4de397f6.
Der volle Inhalt der QuelleButler, Lisa Maree. „Molecular analysis of the human Fas gene in colorectal cancer /“. Title page, contents and summary only, 1998. http://web4.library.adelaide.edu.au/theses/09PH/09phb9858.pdf.
Der volle Inhalt der Quelle王曉飛 und Xiaofei Wang. „Molecular characterization and cytogenetic analysis of chicken repetitive DNA sequences“. Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1999. http://hub.hku.hk/bib/B31239419.
Der volle Inhalt der QuelleHui, Wing-sum, und 許永森. „Molecular and mutation analysis of hereditary multiple exostoses“. Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2002. http://hub.hku.hk/bib/B42577081.
Der volle Inhalt der QuelleCai, Guo Qin 1966. „Molecular genetic analysis of acetoacetate metabolism in Sinorhizobium meliloti“. Thesis, McGill University, 2001. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=37876.
Der volle Inhalt der QuelleOne transposon-generated mutant, age-1, showed enhanced growth rate on acetoacetate medium. Genetic mapping and transductional analysis indicated that the location of the mutation in age-1 is tightly linked to acsA2. Fine mapping with PCR and DNA sequence techniques showed that Tn5 in age-1 was located at 132 by upstream of the putative translation start site of acsA2. Gene expression analysis indicated that age-1 insertion results in elevated transcription of acsA2. Thus enhanced growth rate on acetoacetate was due to the increased gene expression. acsA2 transcription was induced by acetoacetate and 3-hydroxybutyrate, and repressed by glucose and acetate.
All mutants formed root nodules that fixed nitrogen with varying decrease of impairment. Acetoacetate metabolism and the PHB degradation are not essential for symbiosis.
Ma, Huan, und 马欢. „Molecular analysis of ocular adnexal lymphomas in the search for potential biomarkers“. Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2011. http://hub.hku.hk/bib/B46921655.
Der volle Inhalt der QuelleFlomerfelt, Francis Andrew. „Molecular genetic analysis of glucocorticoid-induced thymocyte apoptosis“. Diss., The University of Arizona, 1994. http://hdl.handle.net/10150/187007.
Der volle Inhalt der QuelleYu, Yong Gang. „Molecular genetic analysis of host resistance to soybean mosaic virus“. Diss., Virginia Tech, 1994. http://hdl.handle.net/10919/37253.
Der volle Inhalt der QuelleRemédios, Joana Fortuna dos. „Aspects of molecular ecology of carnivore viruses : sapovirus and coronavirus“. Master's thesis, Universidade de Lisboa, Faculdade de Medicina Veterinária, 2018. http://hdl.handle.net/10400.5/15510.
Der volle Inhalt der QuelleCurrent knowledge on the epidemiology of many pathogens of wild animals is limited and little is known about their genetic diversity, geographic and host species range, and their potential to spread between wild, domestic and human species. This thesis, developed at the Leibniz Institute for Zoo and Wildlife Research, includes two studies that seek to contribute to increase the knowledge in this field. The first study aimed to test the hypothesis that consecutive outbreaks of Sapovirus (SaV) infection in spotted hyenas (Crocuta crocuta), detected by a previous study on this species in the Serengeti National Park, resulted from the emergence of antigenically different strains of the virus. Virus RNA was extracted from faecal samples obtained from three infected hyenas and amplified using conventional RT-PCR methods, with the aim of sequencing a fragment of the virus genome known to be important in determining the antigenic type of SaV strains. Although a diverse set of primer pairs were tried, only a partial sequence of the targeted gene was obtained from one sample, thus it was not possible to determine if the outbreaks of SaV infection among spotted hyenas in the Serengeti were caused by distinct antigenic strains. The second study targeted aminopeptidase N (APN), a protein known to work as the host cell receptor for a great number of alphacoronaviruses (α-CoVs). In vitro studies have demonstrated that canine and feline APNs can facilitate the entry of α-CoVs from different species into these carnivore’s cells. This work aimed to investigate the phylogenetic relation between APN from different carnivore species. A particular focus was given to the region known to interact with α-CoVs during cell entry, with the purpose to better understand the possibility of α-CoVs from particular host species successful extending their range of hosts. The detection of isoforms of APN was also sought. The amplification and sequencing of nine tissue samples of wild carnivores was performed using conventional RT-PCR and molecular cloning methods, followed by the phylogenetic analysis of the results. Seven partial sequences of APN were obtained and their phylogenetic relation corresponded to that of their animals of origin. However, the analysis of the specific region where the virus attaches revealed that the species from the families Hyaenidae and Herpestidae (suborder Feliformia) were phylogenetically more similar to the species from Caniformia suborder rather than those from Feliformia suborder. This suggests that α-CoVs that infect the species in these two families might extend their host range to species in Caniformia rather than Feliformia suborder. The results obtained complement the already existing information on both Sapovirus and APN.
RESUMO - Aspetos da ecologia molecular de vírus de carnívoros: Sapovirus e Coronavirus - O conhecimento atual sobre a epidemiologia de muitos agentes patogénicos em animais selvagens é limitado e pouco se sabe sobre a sua diversidade genética, a sua extensão geográfica e de espécies hospedeiras, e o seu potencial de propagação entre espécies selvagens, domésticas e humana. Esta tese, desenvolvida no Leibniz Institute for Zoo and Wildlife Research, inclui dois estudos que procuram contribuir para o aumento do conhecimento nesta área. O primeiro estudo procurou testar a hipótese de que surtos consecutivos de infeção por Sapovirus (SaV) em hienas-malhadas (Crocuta crocuta), detetados por um estudo prévio nesta espécie no Parque Nacional do Serengeti, resultaram da emergência de estirpes antigenicamente diferentes do vírus. O RNA do vírus foi extraído de amostras fecais obtidas de três hienas infetadas e amplificado usando métodos convencionais de RT-PCR, com o objetivo de sequenciar um fragmento do genoma viral que se sabe ser importante para a determinação do tipo antigénico das estirpes de SaV. Apesar de terem sido experimentados vários conjuntos de primers, apenas foi obtida uma sequência parcial do gene-alvo de uma amostra, pelo que não foi possível determinar se os surtos de infeção por SaV entre as hienas-malhadas no Serengeti foram causados por estirpes antigenicamente distintas. O segundo estudo visou a aminopeptidase N (APN), uma proteína conhecida como recetor celular para um grande número de alfa-coronavirus (α-CoVs). Estudos in vitro demonstraram que as APNs canina e felina conseguem facilitar a entrada de α-CoVs de diferentes espécies nas células destes carnívoros. Este trabalho teve por objetivo investigar a relação filogenética entre a APN de diferentes espécies de carnívoros. Uma atenção particular foi dada à região que se sabe interagir com os α-CoVs durante a sua entrada na célula, com o propósito de melhor compreender a possibilidade de α-CoVs de uma espécie hospedeira particular alargarem com sucesso o seu leque de hospedeiros. Procurou-se também a presença de isoformas da APN. A amplificação e sequenciação de nove amostras de tecidos de carnívoros selvagens foram realizadas usando métodos convencionais de RT-PCR e métodos de clonagem molecular, seguidos da análise filogenética dos resultados. Sete sequências parciais da APN foram obtidas e a sua relação filogenética correspondeu à dos seus animais de origem. No entanto, a análise da região específica onde o vírus adere revelou que as espécies das famílias Hyaenidae e Herpestidae (subordem Feliformia) eram filogeneticamente mais semelhantes a espécies da subordem Caniformia do que da subordem Feliformia. Isto sugere que α-CoVs que infetem espécies desta duas famílias possam estender a sua variedade de hospedeiros a espécies da subordem Caniformia em vez da subordem Feliformia. Os resultados obtidos complementam a informação já existente acerca do SaV e do APN.
N/A
Zhu, Rui, und 朱睿. „Liver-intestine cadherin (CDH17) in hepatocellular carcinoma: molecular analysis and clinicalimplications“. Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2009. http://hub.hku.hk/bib/B43703793.
Der volle Inhalt der QuelleFisher, Scott Andrew. „Clinical and molecular analysis of the hepatitis C virus“. University of Western Australia. School of Biomedical, Biomolecular and Chemical Sciences, 2006. http://theses.library.uwa.edu.au/adt-WU2006.0099.
Der volle Inhalt der QuelleCullen, Lara Michelle. „Molecular analysis of hereditary haemochromatosis“. Thesis, Queensland University of Technology, 1999.
Den vollen Inhalt der Quelle findenWang, Yongfeng, und 王永峰. „Molecular analysis of ammonia oxidizing prokaryotes in mangrove wetlands and factors affecting their dynamics“. Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2013. http://hub.hku.hk/bib/B50434421.
Der volle Inhalt der Quellepublished_or_final_version
Biological Sciences
Doctoral
Doctor of Philosophy
Campeau, Eric. „Molecular genetics of biotin-dependent enzymes : mutation analysis, expression and biochemical studies“. Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0019/NQ55308.pdf.
Der volle Inhalt der QuelleJulies, Monique G. „Molecular-genetic analysis of Hirschsprung's disease in South Africa“. Thesis, Stellenbosch : Stellenbosch University, 2000. http://hdl.handle.net/10019.1/51835.
Der volle Inhalt der QuelleENGLISH ABSTRACT: Hirschsprung's disease, or aganglionic megacolon, is a common cause of intestinal obstruction in neonates and is associated with the congenital absence of intrinsic ganglion cells in the myenteric and submucosal plexuses of the gastrointestinal tract. The affected area is usually restricted to the distal part of the colon (short segment disease), but total colonic or intestinal involvement occurs in some patients (long segment disease). DNA analysis was performed on samples from 53 unrelated sporadic HSCR patients to search for mutations in RET proto-oncogene, endothelin-B receptor (EDNRB) and endothelin-3 (EDN3) genes. The patients were from different ethnic groups in South Africa, including 29 coloured, 14 white (Caucasian) and 9 black individuals. The origin of 1 patient was unknown. PCR HEX-SSCP analysis of the RET protooncogene revealed one previously described (P973L) and five novel mutations (V202M, E480K, IVS10-2A1G, D771N, IVS19-9Crr), likely to cause or contribute to the HSCR phenotype. Nine polymorphisms were also identified in the RET protooncogene, of which four were novel (IVS6+56deIG, IVS13-29Crr, IVS16-38deIG, X1159) and five previously described (A45, A432, L769, S904, R982). All the mobility shifts detected in the EDNRB gene represented polymorph isms (A60T, S184, 1187, V234, L277, IVS3-6Crr, IVS4+3A1G). No sequence variants were identified in the EDN3 gene. The majority of mutations in the RET proto-oncogene (28.6%) were identified in coloured patients while no mutations were identified in black patients. A mutation in RET was identified in two of 14 patients (14%) presenting with HSCR and Down's syndrome compared to 6 mutations identified in 9 of 39 patients (23%) with only HSCR. The fact that Down's syndrome patients have a high chance of developing HSCR, implies the involvement of modifier gene(s) in a HSCR/Oown's syndrome phenotype. This study demonstrated that, within the South African HSCR patient population, the RET proto-oncogene is the major susceptibility gene, whereas EDNRB and EDN3 may contribute only to a minority of cases. In 81% of patients no disease-causing mutation could be identified, which is in keeping with the heterogeneous nature of HSCR. The identification of mutations in HSCR patients would in future lead to improved and accurate counselling of South African HSCR patients and their families.
AFRIKAANSE OPSOMMING: Hirschsprung se siekte (HSCR), ook bekend as aganglionosis megakolon, is 'n algemene oorsaak van intestinale obstruksie in pasgeborenes en word geassosieer met die kongenitale afwesigheid van intrinsieke ganglion selle, in die miênteries en submukosa pleksus van die gastrointestinale kanaal. Alhoewel die aangetaste deel hoofsaaklik by die distale area van die kolon geleê is (kort segment siekte), kom totale koloniese of intestinale betrokkenheid ook in sommige pasiënte voor (lang segment tipe). Molekulêre ONS analise van 53 nie-verwante Suid Afrikaanse sporadiese HSCR pasiênte (29 kleurlinge, 14 blankes, 9 swartes en 1 individu van onbekende oorsprong) is uitgevoer in die RET proto-onkogeen, endoteel-B reseptor (EDNRB) en endoteel-3 (EDN3) gene. Heterodupleks-enkel string konformasie polimorfisme (HEX-SSCP) analise van polimerase ketting reaksie (PKR) geamplifiseerde produkte van die RET proto-onkogeen het gelei tot die identifikasie van vyf nuwe mutasies (V202M, E480K, IVS10-2A1G, D771N, IVS19-9CIT) en een bekende mutasie (P973L). Vier nuwe polimorfismes (IVS6+56deIG, IVS13-29Crr, IVS16-38deIG, X1159) en vyf bekende polimorfismes (A45, A432, L769, S904, R982) is ook aangetoon. Sewe polimorfismes (A60T, S184, 1187, V234, L277, IVS3-6CIT, IVS4+3A1G) is in die EDNRB geen geïdentifiseer. Geen veranderinge is in die EDN3 geen waargeneem nie. Die meerderheid mutasies waargeneem in die RET protoonkogeen is in die kleurling populasie (28.6%) waargeneem, terwyl geen mutasies in die swart populasie geïdentifiseer is nie. 'n RET mutasie is in twee van 14 (14%) pasiênte met 'n HSCR en Down's sindroom fenotipe waargeneem, in vergelyking met mutasies geïdentifiseer in 9 van 39 pasiënte (23%) met slegs HSCR. Die algemene voorkoms van Down's sindroom met HSCR, impliseer die rol van ander gene in die HSCRI Down's sindroom fenotipe. Die meerderheid mutasies wat aanleiding gee tot die HSCR fenotipe kom voor in die RET proto-onkogeen (19%), terwyl slegs polimorfismes in die EDNRB geen waargeneem is. Geen HEX-SSCP bandpatroon veranderinge is in die EDN3 geen waargeneem nie. Ongeveer 81% van die Suid Afrikaanse HSCR pasiënte was mutasie-negatief wat dui op die heterogene aard van die siekte. In die toekoms sal analise van siekte-verwante mutasies in die RET geen lei tot akkurate diagnose en verbeterde genetiese voorligting van HSCR in die Suid-Afrikaanse populasie.
Lee, Kwok-ho, und 李國豪. „Molecular analysis of anammox, AOA and AOB in high nitrogen sediment and wetlands“. Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B45544190.
Der volle Inhalt der QuelleXu, Yunhe. „Molecular and diagnostic aspects of the protein p41 of HHV-6 and silencing of the CD46 receptor by RNA interference /“. Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-553-0.
Der volle Inhalt der QuelleHuman, Veronique. „Molecular analysis of genes involved in iron overload implicated in oesophageal cancer“. Thesis, Link to the online version, 2007. http://hdl.handle.net/10019/391.
Der volle Inhalt der QuelleLuo, Shun. „Molecular analysis of glycogen phosphorylase-1 gene expression during the development of dictyostelium discoideum“. Diss., Virginia Tech, 1992. http://hdl.handle.net/10919/39711.
Der volle Inhalt der QuellePh. D.
Lin, Ying Chen, und 林映辰. „Functional analysis of anther-specific genes essential for pollen exine development and male fertility in tobacco“. Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B50534178.
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Biological Sciences
Master
Master of Philosophy
Bruiners, Natalie. „Investigating the Human-M. tuberculosis interactome to identify the host targets of ESAT-6 and other mycobacterial antigens“. Thesis, Stellenbosch : Stellenbosch University, 2012. http://hdl.handle.net/10019.1/71977.
Der volle Inhalt der QuelleENGLISH ABSTRACT: The causative agent of human tuberculosis, Mycobacterium tuberculosis, is an intracellular pathogen that secretes virulence factors, namely ESAT-6 and CFP-10, as substrates of the ESX-1 secretion system. It is hypothesised that these substrates interact with host proteins in a targeted manner in order to elicit a required immune response, and they have been shown to be involved in processes related to pro-inflammatory responses, necrosis, apoptosis, membrane lysis and cytolysis. However, the biological function of ESX-1 substrates during host-pathogen interactions remains poorly and incompletely understood. Therefore, the present study was designed to gain insight into the role of the ESX-1 secretion system substrates in host-pathogen interactions and to identify how M. tuberculosis mediates the response of the human host. In this study, a cDNA yeast two-hybrid library was constructed from human lung mRNA, to identify mycobacterial-host protein-protein interactions that occur within the lung alveoli. The ESX-1 secretion system substrates, ESAT-6 and CFP-10, were cloned in-frame into the pGBKT7 vector, which was used in the yeast two-hybrid system to screen the lung cDNA library in Saccharomyces cerevisiae. The ESAT-6 and CFP-10 screens identified 79 and 19 positive colonies, respectively. Of the total number of clones characterised, only two in-frame inserts were identified with the ESAT-6 screen, corresponding to the human proteins filamin A and complement component 1, q subcomponent, A chain (C1QA). In addition, the screen with CFP-10 also identified C1QA as binding partner. Subsequent in vitro and in vivo experiments were unable to confirm the putative interactions of C1QA with ESAT-6 and CFP-10. However, the interaction between filamin A and ESAT-6 was demonstrated and confirmed by both in vivo co-localisation and co-immunoprecipitation. Furthermore, the degradation of filamin A in the presence of ESAT-6 was shown to be reflective of cytoskeleton remodelling and the induction of cell death. The work presented here suggests that as ESAT-6 gains access to the cytosol, it initiates cell death by inducing destabilisation of the cytoskeleton cell structure. This may possibly be driven by the interaction of ESAT-6 and filamin A. Finally, we also initiated an investigation of the identified putative binding partners (filamin A and C1QA) as possible genetic markers for genetic susceptibility studies to tuberculosis. A case-control analysis was performed involving 604 cases, of which 109 were Tuberculous Meningitis (TBM), and 486 were controls from the South African Coloured (SAC) population within the Ravensmead-Uitsig catchment area. The results of this analysis demonstrated a novel association of a regulatory variant (rs587585) located upstream of the C1QA gene and demonstrated an increasing trend towards increased values in tuberculosis patients with the associated genotype. This study has contributed significantly to our understanding of human-mycobacterial hostpathogen protein-protein interactions and has opened the way for future studies further exploring the consequences and function of the identified ESAT-6-filamin A interaction. It has also led to the identification of a novel genetic association with tuberculosis. Finally, it demonstrates the usefulness of the yeast two-hybrid system to identify potential proteinprotein (host-pathogen) interactions that can lead to additional important and exciting research.
AFRIKAANSE OPSOMMING: Die organisme wat tuberkulose veroorsaak, Mycobacterium tuberculosis, is `n intrasellulȇre patogeen wat virulensie faktore afskei, naamlik ESAT-6 en CFP-10, as substrate van die ESX-1 sekresiesisteem. Daar word vermoed dat hierdie substrate met gasheerproteïene in „n teiken wyse interaksie het om `n vereiste immuunreaksie voort te bring. Hierdie substrate is betrokke by prosesse soos pro-inflammatoriese reaksies, nekrose, apoptose, membraanlise en sitolise. Die biologiese funksie van die ESX-1 substrate tydens gasheer-patogeen interaksies word egter tans swak en onvolledig verstaan. Daarom was die huidige studie ontwerp om insig te bekom oor die rol hiervan in gasheer-patogeen interaksies en om te identifiseer hoe M. tuberculosis die reaksie teenoor die gasheer bemiddel. In hierdie studie was `n komplementȇre deoksiribonukleïensuur (kDNS) gis twee-hibried biblioteek gemaak vanaf long boodskapper ribonukleïensuur (bRNS) om proteïen-proteïen interaksies wat in die long plaasvind, te identifiseer. Die substrate van die ESX-1 sekresiesisteem, ESAT-6 en CFP-10, is in volgorde gekloneer in die pGBKT7 vektor en is gebruik om die long kDNS biblioteek in Saccharomyces cerevisiae te ondersoek. In die soeke na interaksies met ESAT-6 and CFP-10, was 79 en 19 positiewe kolonies onderskeidelik geïdentifiseer. Van die aantal klone, was slegs twee volgordes in-leesraam geïdentifiseer met ESAT-6. Hierdie proteïene het ooreengestem met filamin A en “complement component 1, q subcomponent, A chain” (C1QA). Bykomend hiertoe, is C1QA ook geïdentifiseer as „n bindende vennoot met CFP-10. Daaropvolgende in vitro and in vivo eksperimente kon nie die vermeende interaksie van C1QA met ESAT-6 en CFP-10 bevestig nie. Maar die interaksie tussen filamin A en ESAT-6 kon wel gedemonstreer word deur die gebruik van mede-lokalisering en medeimunopresipitasie. Die afbreek van filamin A in die teenwoordigheid van ESAT-6 is ook aangetoon en blyk „n weerspieëling te wees van sitoskelet hermodellering en die induksie van seldood. Die werk wat hier aangebied word, dui daarop dat soos ESAT-6 toegang kry tot die sitosol, inisieër dit seldood deur die destabilisaisie van die sitoskelet selstruktuur. Dit word moontlik aangedryf deur die interaksie van ESAT-6 met filamin A. Laastens het ons `n ondersoek van die geïdentifiseerde bindingsvennote (filamin A and C1QA) as moontlike genetiese merkers vir genetiese vatbaarheidsstudies vir tuberkulose uitgevoer. `n Pasiënt-kontrole studie is gedoen waarby 604 individue ingesluit is, waarvan 109 gediagnoseer is met Tuberculosis Meningitis (TBM), en die ander 486 kontrole individue was van die Suid Afrikaanse Kleurling (SAC) bevolking binne die Ravenmead-Uitsig opvanggebied. Die resultate het „n nuwe assosiasie van „n regulerende variant (rs587585) wat stroomop van die C1QA geen gelokaliseer is, getoon. Hierdie variant het `n verhoogde neiging in tuberkulose pasiënte met die geassosieërde genotipe getoon. Hierdie studie het `n beduidende bydrae gemaak tot ons begrip van menslike-mikobakteriese gasheer-patogeen proteïen-proteïen interaksies. Hierdie resultate het die weg oopgemaak om die gevolge en funksie van die geïdentifiseerde ESAT-6-filamin A interaksie verder te ondersoek. Dit het ook aanleiding gegee tot die identifikasie van `n genetiese assosiasie met tuberkulose. Om saam te vat, hierdie werk bewys die bruikbaarheid van die gis twee-hibriede sisteem, om potensiële proteïen-proteïen interaksies te ontdek wat die moontlikheid het om aanleiding te gee tot addisionele navorsingsvrae.
The National Research Foundation,
Harry Crossley Foundation
Medical Research Council of South Africa
Stellenbosch University Postgraduate bursary
Prof. Paul van Helden
Agenbag, Gloudi. „Molecular genetic analysis of familial breast cancer in South Africa“. Thesis, Link to the online version, 2005. http://hdl.handle.net/10019/953.
Der volle Inhalt der QuelleZhian, Samaneh. „Molecular Genetic Analysis of CRELD1 in Patients with Heterotaxy Disorder“. PDXScholar, 2011. https://pdxscholar.library.pdx.edu/open_access_etds/410.
Der volle Inhalt der QuelleChang, Yea-wen, und 張雅雯. „Application of molecular genetic techniques to the study of major histocompatibility complex class II allelic associations with insulin-dependent diabetes mellitus in Chinese“. Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1997. http://hub.hku.hk/bib/B31213960.
Der volle Inhalt der QuelleVarga, Andrea Erica. „Molecular characterisation, regulation and evolutionary analysis of uroplakin 1B : a tetraspanin family member /“. Title page, errata, table of contents and summary only, 2003. http://hdl.handle.net/2440/37940.
Der volle Inhalt der QuelleThesis (Ph.D.)--Dept of Surgery, 2003.
Halpern, Melissa Dale. „The in vivo and in vitro effects of diethyldithiocarbamate on autoimmune New Zealand Black/White F₁ hybrid, MRL/Mp-lpr/lpr and related and normal murine strains“. Diss., The University of Arizona, 1989. http://hdl.handle.net/10150/184940.
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