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Telomere length - inheritance pattern and role as a biomarkerNordfjäll, Katarina January 2008 (has links)
Telomeres are repetitive TTAGGG structures ending each chromosome and thereby protecting its integrity. Due to the end-replication problem, telomeres shorten with each cell division. When reaching a critical telomere length (TL), the cells stop dividing and enter replicative senescence. It has been speculated that telomeres might regulate lifespan at the organism level but this hypothesis is controversial. However, telomeres in human blood cells do shorten with increasing age. Telomerase is an enzyme capable of lengthen telomeres. It consists of a catalytic subunit, hTERT, and a RNA template, hTR. Telomerase is active in germ cells, stem cells, activated lymphocytes and highly proliferating epithelial cells while no activity is found in other somatic cells. One step in order to produce a tumour mass is that cancer cells need to have a limitless replicative potential and this can be achieved by activating telomerase. Most tumour cells express telomerase activity and hence, the enzyme is an interesting target for cancer therapy. Telomere length is in part inherited. Two separate family cohorts were investigated to elucidate the inheritance pattern and a strong paternal inheritance was observed. In the larger, multifamily cohort spanning up to four generations, a weak correlation between the TL of the mother and the child was also found, as well as a significant correlation between grandparent-grandchild pairs. Interestingly, the heritable impact diminished with increasing age, indicating than non-heritable factors might influence TL during life. A functional T to C transition polymorphism in the hTERT promoter was previously reported, showing that the -1327C/C genotype was correlated with shorter TL compared to the alternative genotypes in healthy individuals and in coronary artery disease patients. When investigating 226 myocardial infarction patients and 444 controls separately, no differences were observed regarding mean TL or increased attrition rate between the different genotypes. TL in blood cells is shown to be altered in patients with certain types of solid tumours. In our breast cancer cohort, TL was a strong prognostic marker. Short telomeres were associated with increased survival, especially in young patients and in those with advanced tumours. It has been speculated that cancer patients might have a faster telomere attrition rate than controls but this has not been experimentally proven. Two blood samples from the same individual taken with 9-11 years interval was investigated. Some were diagnosed with a malignancy after the second blood draw. When comparing patients with controls, telomere attrition rate was not correlated to future tumour development. About one third of the individuals elongated their telomeres over a decade and the individual telomere attrition rate was telomere length dependent, showing an inverse correlation to TL at a highly significant level. This strongly suggests that the TL maintenance mechanism shown to provide protection for short telomeres in vitro is important also in human cells in vivo.
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Familial Inheritance in Congenital Heart Disease: A Focus on Tetralogy of FallotSwaby, Jodi-Ann 20 December 2011 (has links)
Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease (CHD). The understanding of the genetics and inheritance of TOF is limited. Although about 15% of cases are associated with a 22q11.2 deletion, the majority have no known aetiology. Even in 22q11.2 Deletion Syndrome (22q11DS), factors that increase the likelihood of CHD expression are poorly understood. We aimed to determine the prevalence and phenotypes of CHD in relatives of adults with TOF. We also investigated the prevalence of CHD in relatives without a 22q11.2 deletion of individuals with 22q11DS. Offspring of patients with TOF had the greatest prevalence of CHD. Diverse cardiac phenotypes, including left heart obstructive lesions, were found in families. We also found that unaffected relatives of individuals with 22q11DS had a greater prevalence of complex CHD over population expectations, suggesting that modifier genetic factors may be involved in expression of CHD in 22q11DS.
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Familial Inheritance in Congenital Heart Disease: A Focus on Tetralogy of FallotSwaby, Jodi-Ann 20 December 2011 (has links)
Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease (CHD). The understanding of the genetics and inheritance of TOF is limited. Although about 15% of cases are associated with a 22q11.2 deletion, the majority have no known aetiology. Even in 22q11.2 Deletion Syndrome (22q11DS), factors that increase the likelihood of CHD expression are poorly understood. We aimed to determine the prevalence and phenotypes of CHD in relatives of adults with TOF. We also investigated the prevalence of CHD in relatives without a 22q11.2 deletion of individuals with 22q11DS. Offspring of patients with TOF had the greatest prevalence of CHD. Diverse cardiac phenotypes, including left heart obstructive lesions, were found in families. We also found that unaffected relatives of individuals with 22q11DS had a greater prevalence of complex CHD over population expectations, suggesting that modifier genetic factors may be involved in expression of CHD in 22q11DS.
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Property Law in Roman Egypt in the Light of the Papyri: Safeguarding Women's Economic InterestsSturym, Melina 08 1900 (has links)
This study looks at the role of women in the economic environment of Roman Egypt in the light of the papyri. By examining marriage and inheritance documents from the first three centuries, the study shows that marital and inheritance laws and customs in Roman Egypt were made to protect women’s interests when it came to ownership and possession of property, which is one of the main reasons why women played such a prominent role in Egypt’s economic environment.
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Självbild och relationer vid missbruk : En kvalitativ studie om självbildens utveckling hos före detta missbrukare / Self- image and relationships while in an addiction : A qualitative study on self-image development among former addictsFurmanski, Joanna, Malmström, Josefin January 2012 (has links)
Syftet med den här kvalitativa studien är att studera självbilden hos före detta missbrukare. För att undersöka syftet delas det in i tre frågeställningar: Vad har påverkat före detta missbrukare i utveckling av självbilden? Vilken betydelse har uppväxt och relationer haft för utveckling av självbilden? Hur har missbruket påverkat hur individerna definierar sig själva? För att besvara dessa frågor utfördes en intervjustudie av sex vuxna i Stockholm med en bakgrund i missbruk. Materialet bearbetas genom tematisering för att undersöka specifika kategorier som i analysen delas in i övergripande teman. Intervjumaterialet analyseras genom teorier om självbild, identitetsutveckling, socialt arv och individens påverkan av utanförskap och erkännande. Studien visar på att missbruket varit betydande men inte i den grad som de sociala faktorerna. En slutsats är att händelser och relationer har varit av stor betydelse för individernas självbild. Resultatet överensstämmer med tidigare forskning som visar på att uppväxt, relationer och avgörande händelser påverkar självbilden. / The purpose of this qualitative study is to examine the self-image of former addicts. The purpose is divided into three research questions: What has influenced former drug addicts in the development of the self-image? What significance has the childhood and relationships had for developing the self-image? What impact has the addiction had on the way these individuals define themselves? To answer these questions the authors conducted six semi-structured interviews, with individuals who have had a former addiction. The empirical material was thematically structured and examined out of specific categories and divided into themes in the analysis.The material is analyzed by theories about self-image, identity development, social inheritance and the impact of alienation and recognition. The study shows that the abuse itself had significant meaning for the self-image of these individuals, but not to the extent of the social factors. One conclusion is that critical events and relationships have been of great importance for developing the self-image. The results are consistent with previous research showing that childhood, relationships and essential events in life may affect the development of the self-image.
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Two Evolutionary Models For Reconceptualizing Architectural Ideas And The Architectural Design ProcessAnay, Hakan 01 September 2008 (has links) (PDF)
This study puts forward two complementary evolutionary models and explores the potential of the proposed models and the related theses by employing two case studies. The theoretical/conceptual framework of the study refers to architectural theory, design research, and evolutionary epistemology. The study mainly involves application of some key ideas from evolutionary epistemology, Popper& / #8217 / s three-world ontology, and the theory of evolution to the field of architecture.
The first model is about the nature of the architectural ideas or thought contents and it introduces the idea of conceptual inheritance and an evolutionary conception of architectural ideas. The model proposes a framework that offers an understanding of the life and existence of architectural ideas and their inheritance. It also puts forward an expanded view of architectural ideas that conceives all the thought contents, which architectural designs (or works) and the architectural design process might concern, as architectural ideas. In order to illustrate and discuss the model, some of the architectural ideas carried by Mario Botta& / #8217 / s single-family house in Breganzona are selected and the evolutionary lineage of these ideas have been identified and examined in their instances in some of Botta& / #8217 / s own designs and in some designs from architectural tradition.
The second model is an evolutionary model of the architectural design process. While emphasizing the evolutionary or selectionist character of architectural design in terms of process and inner dynamics, the model conceives architectural design as a process consisting of the two stages of forming/making, and evaluation/selection where in the first stage formative ideas, in the second, selective conditions are operational. In order to illustrate the potentialities of the model, the sketches and the drawings produced during the design process of Mario Botta& / #8217 / s single-family house in Breganzona are examined.
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The Future Inheritance of Land in the Pauline EpistlesEchevarria, Miguel 16 May 2014 (has links)
Chapter 1 introduces the need for an updated study on the inheritance in the Pauline epistles, examines the history of research on this topic, and states the thesis of this dissertation. Then it explains the method that will be employed to examine the relevant inheritance texts and provides an overview of the dissertation.
Chapter 2 argues that typology and intertextuality are significant for interpreting the inheritance in Paul. Thus it explains these hermeneutical concepts before moving on to an analysis of the pertinent texts.
Chapter 3 contends that in Genesis to Chronicles the central understanding of the inheritance is the land of Canaan promised to Abraham and his descendants (e.g.Gen 15:3-5, 17:8; 21:10), the territory to which Israel sojourned and established a kingdom.
Subsequently, chapter 4 displays that the Psalms and Prophets expand the inheritance to include the eschatological world (e.g., Ps 2; Isa 54, 65-66). When God's people enter their inheritance, David's royal descendent will reign over them forever (Ezek 36-37; cf. Dan 7).
Chapter 5 demonstrates that the Second Temple literature, in line with the Psalms and Prophets, expands the inheritance to include the whole world (e.g., Sir 44:21; Jub. 22:14, 32:19). This is the place to which God's people will be resurrected to dwell (e.g., 4 Ezra 7) and over which Messiah will reign (e.g., 1 En. 51:1-5; 1QHª 14:29-31).
Chapter 6 argues that Paul's interpretation of the inheritance in Galatians follows that of the Old Testament and Second Temple literature, for he views this theme to be the renewed world (3:15-29; 4:21-31) where God will establish his lasting monarchy (4:1-7). Paul also suggests that the Spirit will see to it that believers receive their future inheritance (4:1-7).
Chapter 7 then examines the pertinent passages in Romans and other Pauline texts, confirming the observations about the inheritance in Galatians.
Chapter 8 summarizes the findings of each chapter and affirms the thesis of this dissertation.
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Genų, atsakingų už spalvos paveldėjimą, tyrimas arklių genome / Investigations of Investigations of genes responsible for coat color inheritance in horses genomeButavičiūtė, Inga 19 April 2007 (has links)
Object and tasks of work: 1. Analyse and summarize literature about horse coat color and it genetic background. 2. Perform phenotypical analysis of Lithuanian Heavy Darught horse coat color polymorphism. 3. Introduce horse MC1R gene research methodology at K. Janušauskas Laboratory of Animal Genetics, LVA. 4. Investigate MC1R gene polymorphism and distribution of different alleles at Lithuanian heavy draught by PCR-RFLP method. 5. Determine correlation between restriction fragment lenght polymorphism (RFLP) in MC1R gene and horse bay coat color polymorhism.
Research methodology: 1. DNA extraction from hair roots. 2. PCR to amplify MC1R gene. 3. RFLP method-MC1R – enzyme Tag I. 3. Electrophoresis in agarose gel. 4. Staining with Etidium bromide. 5. Genotyping. 6. Stasitical analysis of data.
Results and conclutions: The following DNA restriction fragments were obtained for the MC1R – Tag I polymorphism: PCR product - 460 bp; genotypes E/E; ea/ea – 460 bp; genotypes e/e – 275 bp; 185 bp; genotypes E/e; e/ea – 460 bp; 275 bp; 185 bp. After phenotypical investigation of coat color from 32 Lithuanian Heavy draught horses following variation have been found: light bay, bay, dark bay, roan and chesnut. Light bay horses with different intensivity of coat color comprised 84,4 %. From total investigated animals 34.4 % had e/e genotype, E/e – 12.5 %, e/ea - 50 % and E/E genotype – 3.1 %. Two different genotypes e/e (40.7 %) and e/ea (59.3) were found among bay color horses... [to full text]
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Property Law in Roman Egypt in the Light of the Papyri: Safeguarding Women's Economic InterestsSturym, Melina 08 1900 (has links)
This study looks at the role of women in the economic environment of Roman Egypt in the light of the papyri. By examining marriage and inheritance documents from the first three centuries, the study shows that marital and inheritance laws and customs in Roman Egypt were made to protect women’s interests when it came to ownership and possession of property, which is one of the main reasons why women played such a prominent role in Egypt’s economic environment.
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Obels vainiko architektūros genetinė kontrolė ir paveldėjimas / Inheritance and genetic control of apple canopy architectureBendokas, Vidmantas 07 December 2011 (has links)
Naminė obelis (Malus x domestica Borkh.) yra vienas plačiausiai auginamų ir ekonomiškai svarbių vaismedžių. Obels vainiko architektūra yra biologinis požymis, nuo kurio priklauso vaismedžio derėjimo tipas, sąnaudų genėjimui poreikis. Obels vainiko architektūros tyrimai apima augimo reguliatorių taikymo, šakų vystymosi, genėjimo, aplinkos veiksnių poveikio augalų vainiko architektūrai tyrimus. Genetiniai ir fiziologiniai aspektai kol kas mažai ištirti.
Tyrimų tikslas – ištirti obels vainiko architektūros paveldėjimą, nustatyti morfologinius ir molekulinius žymenis, susietus su obels vainiko forma ir numatyti jų panaudojimą juvenaliniame raidos tarpsnyje prognozuojant obels hibridų vainiko formą.
Pirmą kartą nustatyti koloninės ir svyrančios vainiko formos obelų morfologiniai ir biocheminiai žymenys juvenaliniame raidos tarpsnyje. Šių žymenų naudojimas leidžia atrinkti norimos vainiko formos hibridus pirmais auginimo metais. Nustatyti obels morfologinių požymių, tiesiogiai susietų su vainiko architektūra, paveldėjimo dėsningumai. Ištirta, kad kryžminimuose naudotų koloninių veislių Co genas yra heterozigotinėje būsenoje. Pirmą kartą ištirta augalo hormonų dinamika skirtingos vainiko formos obelų lapuose vegetacijos laikotarpiu. Atskleistas abscizo ir giberelo rūgščių antagonistinis ryšys bei sinergetinis ryšys tarp giberelo rūgšties ir zeatino kontroliuojant obelų tarpubamblio ilgį. Pirmą kartą nustatyti biocheminiai žymenys, tinkami hibridų koloninei vainiko formai... [toliau žr. visą tekstą] / Apple (Malus x domestica Borkh.) is one of the most widespread and economically important fruit trees. Canopy architecture of an apple determines fruit bearing and demand for pruning. Main apple canopy architecture topics are related to application of growth regulators, fertilizers, studies of shoot development and pruning, and environmental influence. Genetic and physiologic aspects are studied less.
The aim of the research was to investigate inheritance of apple tree canopy architecture, to identify morphological and molecular markers related to canopy architecture and to evaluate their usage in predicting canopy ideotype of apple seedlings in juvenile phase.
Morphological and biochemical markers for selection of columnar and weeping apple seedlings were identified for the first time. Usage of these markers enables to select hybrids with desired canopy form during first year of growing. Regularities of morphological trait inheritance were established. It was established, that Co gene is dominant heterozygous in parental columnar clones. Dynamics of phytohormones in leafs of apple trees with different canopy architecture during vegetation were evaluated for the first time. Antagonistic relation between abscisic and giberelic acids and synergetic link between giberelic acid and zeatin controlling apple internode length was identified. Biochemical markers for identifying columnar seedling canopy in juvenile phase were established for the first time. High amount of auxin and... [to full text]
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