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You searched for subject:(Polymorphisms haplogroups). Showing records 1 – 3 of 3 total matches.

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1. Matas Crespí, Marina. Interacció VHC-hoste: Estudi genètic i clínic en pacients coinfectats amb VHC-VIH.

Degree: Departament de Biologia, 2013, Universitat de les Illes Balears

L’Organització Mundial de la Salut (OMS) estima que fins a un 3% de la població mundial ha estat infectada pel virus de l’hepatitis C i és la causa més important d’hepatitis crònica, cirrosi i de malaltia hepàtica terminal, que finalment acaba conduint a un transplantament de fetge. La relació entre la variabilitat en la seqüència del virus de l’hepatitis C i el desenvolupament de la malaltia hepàtica és de tipus multifactorial. La infecció crònica causa fibrosi hepàtica, fet que es veu accelerat per mecanismes desconeguts en el cas de pacients coinfectats amb VIH. La progressió de la malaltia produïda pel VHC en pacients coinfectats, està influenciada no només per factors demogràfics, epidemiològics o pels antecedents clínics dels pacients, si no també per diferències genètiques entre els diferents virus i els hostes. Advisors/Committee Members: [email protected] (authoremail), true (authoremailshow), Castro Ocón, José Aurelio (director), Ramon Juanpere, Maria Misericòrdia (director), true (authorsendemail).

Subjects/Keywords: virus de l’hepatitis C, VHC, virus de la immunodeficiència humana, VIH, coinfecció VHC-VIH, model lineal generalitzat, GLM, dany hepàtic, fibrosi hepàtica, índexs indirectes fibrosi hepàtica, APRI, IF, FIB-4, polimorfismes hostes, haplogrups mitocondrials, LDLr, CTLA4, IL28b, HFE; virus de la hepatitis C, VHC, virus de la inmunodeficiencia humana, VIH, coinfección VHC-VIH, modelo lineal generalizado, GLM, daño hepàtico, fibrosis hepàtica, índices indirectos de fibrosis hepática, APRI, IF, FIB-4, polimorfismos huéspedes, haplogrupos mitocondriales, LDLr, CTLA4, IL28b, HFE; hepatitis C virus, HCV, human immunodeficiency virus, HIV, HCV-HIV coinfection, Generalized linear models, GLM, liver damage, liver fibrosis, fibrosis indirect indexes, APRI, IF, FIB-4, host polymorphisms, mtDNA haplogroups, LDLr, CTLA4, IL28b, HFE; Ciències de la salut; 57; 576

…97 3. RELATING THE OUTCOME OF HCV INFECTION WITH DIFFERENT HOST SNP POLYMORPHISMS IN A… …109 Frequencies of the polymorphisms… 

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Matas Crespí, M. (2013). Interacció VHC-hoste: Estudi genètic i clínic en pacients coinfectats amb VHC-VIH. (Thesis). Universitat de les Illes Balears. Retrieved from http://hdl.handle.net/10803/111335

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Matas Crespí, Marina. “Interacció VHC-hoste: Estudi genètic i clínic en pacients coinfectats amb VHC-VIH.” 2013. Thesis, Universitat de les Illes Balears. Accessed January 15, 2021. http://hdl.handle.net/10803/111335.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Matas Crespí, Marina. “Interacció VHC-hoste: Estudi genètic i clínic en pacients coinfectats amb VHC-VIH.” 2013. Web. 15 Jan 2021.

Vancouver:

Matas Crespí M. Interacció VHC-hoste: Estudi genètic i clínic en pacients coinfectats amb VHC-VIH. [Internet] [Thesis]. Universitat de les Illes Balears; 2013. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/10803/111335.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Matas Crespí M. Interacció VHC-hoste: Estudi genètic i clínic en pacients coinfectats amb VHC-VIH. [Thesis]. Universitat de les Illes Balears; 2013. Available from: http://hdl.handle.net/10803/111335

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

2. Gutierrez Cortes, Nicolas. Expression métabolique des polymorphismes mitochondriaux : mutations pathogènes et haplogroupes : Metabolic expression of mitochondrial polymorphisms : pathological mutations and haplogroups.

Degree: Docteur es, Sciences, technologie, santé. Biologie cellulaire et physiopathologie, 2011, Université de Bordeaux Segalen

Les mitochondries, organelles intracellulaires des eucaryotes, fournissent par les oxydations phosphorylantes l'essentiel de l'énergie nécessaire aux différents travaux cellulaires sous la forme d'ATP grâce à un couplage entre la chaîne respiratoire et l’ATPsynthase. Ces réactions du métabolisme énergétique sont assurées par des complexes enzymatiques constitués de sous-unités codées à la fois par l'ADN nucléaire et par l'ADN mitochondrial. Il a été montré que des défauts dans l'activité de ces complexes pouvaient être responsables de l’apparition de pathologies regroupées sous le nom de cytopathies d’origine mitochondriale. Un des problèmes fondamentaux qui se pose lors de l’étude des mécanismes conduisant aux pathologies mitochondriales est de comprendre l’influence de l’ADN mitochondrial sur le métabolisme de la mitochondrie. En effet, la mitochondrie possède son propre ADN, et les mutations de cet ADN sont classées selon leur impact sur le métabolisme mitochondrial : des mutations pathogènes, qui ont des répercussions négatives sur ce métabolisme, et des polymorphismes, qui sont considérés comme étant neutres.Pour étudier l’influence de l’ADNmt sur le métabolisme énergétique, j’ai utilisé deux modèles d’étude : des cybrids portant des mutations de l’ADNmt retrouvées chez des patients atteints de surdité non-syndromique, et des cybrids portant des polymorphismes caractéristiques de l’haplogroupe J.Les résultats obtenus nous indiquent clairement que la différence entre des mutations pathogènes et des polymorphismes n’est pas aussi importante que ce qui était jusqu’à alors supposé. En effet, elle dépend d’un ensemble de facteurs tels que (i) le fonds génétique nucléaire et mitochondrial, (ii) de facteurs environnementaux. Car sous l’influence de ces différents facteurs une mutation considérée comme pathogène peut devenir neutre, et un polymorphisme considéré comme neutre peut devenir pathogène.

Mitochondria, intracellular organelles of eukaryotic organisms, provide most of the necessary energy for cellular activity through oxidative phosphorylation, synthesizing ATP (energy source for the cell) by a coupling between the respiratory chain and the ATPsynthase. These energy metabolism reactions are carried out by enzymatic complexes constituted by sub-units coded by both nuclear and mitochondrial DNA. It has been shown that activity defects in these complexes could be responsible for a group of pathologies under the name of mitochondrial cytopathies.One of the fundamental issues of the study of the mechanisms that lead to mitochondrial cytopathies is the understanding of the influence that mitochondrial DNA has over mitochondrial metabolism. Indeed, mitochondria have their own DNA, and mutations in this DNA are classified according to their impact on mitochondrial metabolism: pathological mutations, which have negative consequences on mitochondrial metabolism, and polymorphisms, which are considered to be neutral.In order to study the influence of mtDNA on energy metabolism, I used two different models: cybrid cells…

Advisors/Committee Members: Rocher, Christophe (thesis director).

Subjects/Keywords: Mitochondrie; ADNmt; OXPHOS; Cytopathies d’origine mitochondriale; Mutations de l’ADNmt; Polymorphismes; Haplogroupes; Surdité; Mitochondria; MtDNA; OXPHOS; Mitochondrial cytopathies; MtDNA mutations; Polymorphisms; Polymorphisms, haplogroups; Deafness

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Gutierrez Cortes, N. (2011). Expression métabolique des polymorphismes mitochondriaux : mutations pathogènes et haplogroupes : Metabolic expression of mitochondrial polymorphisms : pathological mutations and haplogroups. (Doctoral Dissertation). Université de Bordeaux Segalen. Retrieved from http://www.theses.fr/2011BOR21877

Chicago Manual of Style (16th Edition):

Gutierrez Cortes, Nicolas. “Expression métabolique des polymorphismes mitochondriaux : mutations pathogènes et haplogroupes : Metabolic expression of mitochondrial polymorphisms : pathological mutations and haplogroups.” 2011. Doctoral Dissertation, Université de Bordeaux Segalen. Accessed January 15, 2021. http://www.theses.fr/2011BOR21877.

MLA Handbook (7th Edition):

Gutierrez Cortes, Nicolas. “Expression métabolique des polymorphismes mitochondriaux : mutations pathogènes et haplogroupes : Metabolic expression of mitochondrial polymorphisms : pathological mutations and haplogroups.” 2011. Web. 15 Jan 2021.

Vancouver:

Gutierrez Cortes N. Expression métabolique des polymorphismes mitochondriaux : mutations pathogènes et haplogroupes : Metabolic expression of mitochondrial polymorphisms : pathological mutations and haplogroups. [Internet] [Doctoral dissertation]. Université de Bordeaux Segalen; 2011. [cited 2021 Jan 15]. Available from: http://www.theses.fr/2011BOR21877.

Council of Science Editors:

Gutierrez Cortes N. Expression métabolique des polymorphismes mitochondriaux : mutations pathogènes et haplogroupes : Metabolic expression of mitochondrial polymorphisms : pathological mutations and haplogroups. [Doctoral Dissertation]. Université de Bordeaux Segalen; 2011. Available from: http://www.theses.fr/2011BOR21877


University of the Western Cape

3. Brecht, Gadean. Genetic analysis of mitochondrial DNA within Southern African populations.

Degree: 2020, University of the Western Cape

As human beings we are curious about our origin and ancestry. A curiosity has led to an investigation of human evolution and expansion across the world by means of population genetics and phylo-genetics by evaluating a region in Southern Africa that is largely unknown. The objective of this study was to develop a quick, inexpensive and accurate hierarchical diagnostic screening system of the MtDNA phylogenetic tree, AI-SNPs in the mtDNA genome by using High Resolution Melting analysis to evaluate the population composition and ancestral haplogroups of Southern African populations in Limpopo. The admixture between the ‘Khoesan’ hunter-gatherers, herders and the Bantu speaking populations led to population growth and expansion in Limpopo. This has contributed to populations settling in Limpopo and has thus shaped the ancestral contemporary populations. No research on these individuals residing in Limpopo has been done before, thus an investigation of their ancestral origin was necessary. A total of 760 saliva samples were collected from individuals residing in Limpopo. Only 500 saliva samples were extracted by means of an optimized salting out technique. Five hundred extracted genomic samples were genotyped by means of a quick, inexpensive High-resolution melting analysis. Of the 500 samples, the genotyping results showed 95 individuals derived for the L3 haplogroup which gives a 19% ratio of individuals screened with Multiplex 1. Only 56 individuals were derived for the L1 haplogroup, which gives a percentage of 11%. A total of 249 individuals were derived for the L0 haplogroup, making up a 50% of the total individuals genotyped. Only 100 samples were derived for L0a, making up 20% of individuals screened with Multiplex 1. Of the 95 samples derived for the L3 haplogroup, the results showed 87 individuals to be ancestral for both M and N, making up 91.57% of individuals screened with Multiplex 2. http://etd.uwc.ac.za/. In population genetics using SNPs to infer population history and ancestral origin has become significant, this study allowed researchers to evaluate population groups by investigating their genetic markers and the application of the results allowed for downstream analyses. Finally, this study provides a quick and simple screening method for the selection of lineages that are of interest for further studies. Advisors/Committee Members: D’Amato, Maria Eugenia (advisor).

Subjects/Keywords: Southern African populations; Population genetics; Mitochondrial DNA (mtDNA); Control region; Single Nucleotide Polymorphisms (SNPs); Haplogroups; High Resolution Melting (HRM); Ancestral testing; Diagnostic multiplex; Melting temperature (Tm)

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Brecht, G. (2020). Genetic analysis of mitochondrial DNA within Southern African populations. (Thesis). University of the Western Cape. Retrieved from http://hdl.handle.net/11394/7365

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Brecht, Gadean. “Genetic analysis of mitochondrial DNA within Southern African populations. ” 2020. Thesis, University of the Western Cape. Accessed January 15, 2021. http://hdl.handle.net/11394/7365.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Brecht, Gadean. “Genetic analysis of mitochondrial DNA within Southern African populations. ” 2020. Web. 15 Jan 2021.

Vancouver:

Brecht G. Genetic analysis of mitochondrial DNA within Southern African populations. [Internet] [Thesis]. University of the Western Cape; 2020. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/11394/7365.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Brecht G. Genetic analysis of mitochondrial DNA within Southern African populations. [Thesis]. University of the Western Cape; 2020. Available from: http://hdl.handle.net/11394/7365

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

.