11 resultados para quantitative traits analysis

em Helda - Digital Repository of University of Helsinki


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Obesity increases the risk for several conditions, including type 2 diabetes mellitus, cardiovascular disease, hypertension, osteoarthirits and certain types of cancer. Twin- and family studies have shown that there is a major genetic component in the determination of body mass. In recent years several technological and scientific advance have been made in obesity research. For instance, novel replicated loci have been revealed by a number of genome wide association studies. This thesis aimed to investigate the association of genetic factors and obesity-related quantitative traits. The first study investigated the role of the lactase gene in anthropometric traits. We genetically defined lactose persistence by genotyping 31 720 individuals of European descent. We found that lactase persistence was significantly correlated with weight and body mass index but not with height. In the second study we performed the largest whole genome linkage scan for body mass index to date. The sample consisted of 4401 twin families and 10 535 individuals from six European countries. We found supporting evidence for two loci (3q29 and 7q36). We observed that the heritability estimate increased substantially when additional family members were removed from the analyses, which suggests reduced environmental variance in the twin sample. In the third study we assessed metabonomic, transcriptomic and genomic variation in a Finnish population cohort of 518 individuals. We formed gene expression networks to portray pathways and showed that a set of highly correlated genes of an inflammatory pathway associated with 80 serum metabolites (of 134 quantified measures). Strong association was found, for example, with several lipoprotein subclasses. We inferred causality by using genetic variation as anchors. The expression of the network genes was found to be dependent on the circulatory metabolite concentrations.

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Miniaturized mass spectrometric ionization techniques for environmental analysis and bioanalysis Novel miniaturized mass spectrometric ionization techniques based on atmospheric pressure chemical ionization (APCI) and atmospheric pressure photoionization (APPI) were studied and evaluated in the analysis of environmental samples and biosamples. The three analytical systems investigated here were gas chromatography-microchip atmospheric pressure chemical ionization-mass spectrometry (GC-µAPCI-MS) and gas chromatography-microchip atmospheric pressure photoionization-mass spectrometry (GC-µAPPI-MS), where sample pretreatment and chromatographic separation precede ionization, and desorption atmospheric pressure photoionization-mass spectrometry (DAPPI-MS), where the samples are analyzed either as such or after minimal pretreatment. The gas chromatography-microchip atmospheric pressure ionization-mass spectrometry (GC-µAPI-MS) instrumentations were used in the analysis of polychlorinated biphenyls (PCBs) in negative ion mode and 2-quinolinone-derived selective androgen receptor modulators (SARMs) in positive ion mode. The analytical characteristics (i.e., limits of detection, linear ranges, and repeatabilities) of the methods were evaluated with PCB standards and SARMs in urine. All methods showed good analytical characteristics and potential for quantitative environmental analysis or bioanalysis. Desorption and ionization mechanisms in DAPPI were studied. Desorption was found to be a thermal process, with the efficiency strongly depending on thermal conductivity of the sampling surface. Probably the size and polarity of the analyte also play a role. In positive ion mode, the ionization is dependent on the ionization energy and proton affinity of the analyte and the spray solvent, while in negative ion mode the ionization mechanism is determined by the electron affinity and gas-phase acidity of the analyte and the spray solvent. DAPPI-MS was tested in the fast screening analysis of environmental, food, and forensic samples, and the results demonstrated the feasibility of DAPPI-MS for rapid screening analysis of authentic samples.

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The aim of the study is to describe the consultation discussions between the teacher, parents and the student. The structure and the interaction of the conversation is in the focus of the study. The study explicates the organization of the interaction and orientation of the participants in the conversation. The study approaches conversation as a dynamic activity and studies it from the point of view of the participants. Assessment is one of the themes involved in the teacher-parent-student consultation discussions. Assessment as a duty of the school brings an institutional aspect in the conversation, but the ways it is implemented and expressed varies in the conversational situations. Participants communication and interaction in the situation influences the ways the consultation discussions are carried out. The framework of the study is based on the ethno methodological approach where a social situation and its meaning is seen negotiated by the participants. The interest of the study is to find out how the participants implement mutual understanding and how it can be observed in their interaction. Quantitatively, the interaction of the participants is described in the framework of the interaction analysis and linked to the socio-emotional and rational aspects of the interaction. The empirical part of the study consists of data collected with questionnaires and videotaped conversations. The main research problems of the study are, how the teachers and parents described the consultation discussions and how the interaction of the teacher, the parent and the student is organized during the conversation. The background of the study is linked to the previous studies concerning co-operation between the teacher and the parent and home-school relationship. This part of the study aims to enlighten how the consultation discussions are part of the co-operation in the school context. The questionnaires link the consultation discussions to the every day co-operation between the teacher and the family. Expectations and results described by the parents and teachers are analysed. Videotaped data is both analysed quantitatively based on interaction analysis and approached with the ethno methodological interpretation. The interest of my study is, how people participate in the situation of consultation discussion, how they orientate in it and influence the conversation. The analyses of the consultation discussions are based on the both quantitative interaction analysis and ethno methodological frame analysis. With the theoretical approach of my study I want to describe and enlighten the organization of the interaction and ways of orientation of the participants in consultation discussions. Keywords: consultation discussion, interaction, evaluation, orientation in the conversation, home-school cooperation, quantitative interaction analysis, frame analysis

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The aim of this work was to study what kind of working grips people use to knit in Finland and decide if one grip is superior to others. I investigated how knitters have adopted their grips and how they experience their knitting. I also explored whether it is possible to change one's grip. To provide a theoretical basis for the research I observed knitting in terms of culture, skill and ergonomics. The first part of the study material comprised video recordings of the grips of 95 knitters together with background information collected via a questionnaire during the education of craft teachers at the University of Helsinki in spring 2004, 2005 and 2006. Using the data obtained I focused on three knitters, whose grip of the knitting needles clearly differed from the ergonomically good grip. In addition to them I interviewed one student, who had changed over to more ergonomic way of knitting after participating in the first part of this study. In this respect my study is a several events' case study. In order to analyse my data I used both qualitative and quantitative content analysis methods to complement each other. Most of my research participants had learned to knit in first years of elementary school or comprehensive school. Almost everyone had adopted the basics of knitting by imitating, and many of them had corrected "incorrect" positions from verbal instructions. Through practice the imitated position had gradually become the style unique to each knitter. The findings showed that students' background in knitting is quite varied due to the diverse level of craft teaching. This is reflected in their knitting grips and their interest in knitting. Students do not think that there is one right working grip. The most important thing is that working seems as fluent and relaxed as possible, at which point knitting is easy and flows freely. They often consider their own style so pleasing and well-functioning that they do not think there could be any room for improvement. This study pointed out that, while it is possible to change a knitter's working grip, there is a bigger challenge in acknowledging weaknesses in one's know how. According to the results of my research, the most common working grip among Finnish knitters' corresponds with the grip that has been described as ergonomically good. Over one third of all participants knitted this way. Hands keep the knitting firmly but without tension. The forefinger that guides the yarn from the ball rests gently against the knitting needle, and the yarn goes in front of the first joint of the forefinger. The position of the hands and loops is the same as in the ergonomically good grip, i.e. the fingertips of both hands and the loops are near the tips of the knitting needles, so that the fingers only have to move small distances. When knitters purl and plain, they commonly pick up the yarn from the back of the knitting needle in the same way as when knitting. While researching the common features of working grips I have learned what abnormal grips are like. Although I recognized many different ways to knit, all the peculiar grips were modifications of the continental way of knitting. The results of this study give a clear picture of those points knitters should focus their attention on in order to gain a good hold of the needles.

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We described the patterns and extent of microsatellite DNA variation in historical and present-day Atlantic salmon (Salmo salar L.) stocks in the Baltic Sea and neighbouring areas, and in European whitefish (Coregonus lavaretus) ecotypes, populations and run-timing types in Finland. Moreover, the amount and pattern of genetic diversity in historical salmon populations before human impact were described, and the proportion of diversity maintained in the present hatchery stocks evaluated. Salmon populations in the Baltic Sea were, on average, significantly less variable than eastern Atlantic populations, and the diversity of landlocked populations (Lakes Vänern, Saimaa, Onega and Ladoga) was in turn significantly lower than that of anadromous salmon populations in the Baltic Sea populations. Within the Baltic Sea, the anadromous populations of Atlantic salmon formed three clear groups, corresponding to the northern (Gulf of Bothnia), eastern (Gulf of Finland and eastern Baltic Main Basin) and southern (western Baltic Main Basin) regions. Based on microsatellite data, three salmon population groups in the Baltic Sea were considered potentially different colonization lineages. In short- and long-term breeding programmes of Atlantic salmon, the average observed rate of loss of alleles was 4.9% and 2.0% per generation and the average rate of loss of heterozygosity was 1.4% and 1% per generation, respectively. When comparing the genetic parameters of stocks before and after hatchery breeding of several successive generations (Rivers Iijoki and Oulujoki), statistically significant changes in allele frequencies were common, while large wild stock in the Teno River has remained temporally very stable over 56 years. Despite the observed losses of genetic diversity in broodstock breeding, a large proportion of the genetic resources of the extirpated stocks are still conserved in the broodstocks. Genetic differentiation among European whitefish ecotypes was generally low, thus giving support to the hypothesis of one native European whitefish species in Fennoscandia. Among the ecotypes, the northern, large sparsely rakered, bottom-dwelling whitefish was the most unique. The known genetic differences in quantitative traits have thus either developed independently of potential phylogenetic lineages, or the lineages have mixed and the quantitative traits of the ecotypes, like gill-raker number, have later changed according to environment and selection pressures. Overall, genetic distances between the anadromous whitefish populations along the Finnish coast, especially in the Bothnian Bay area, were small. Wild whitefish populations studied had slightly higher allelic diversity than hatchery-reared populations in corresponding rivers.

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The study Slogans of Change. Three Outlooks on Finnish Television Contents is concerned with alleged changes of television contents during the 1990s and 2000s, such as dumbing down, tabloidisation, entertainisation , and the like. Specifically, the focus is on the ways these changes might manifest in Finnish television. The aim of the study has been threefold: 1. To operationalise public and academic discussions about changes via specific slogans emerging from the debates; 2. Consequently, to study the slogans empirically and reflect on the findings with earlier research, including studies on institutional and audience-related aspects; 3. Finally, to suggest what the findings might mean regarding discussions about television s role, and what kinds of slogans or concepts might best serve future discussions and research. The empirical outlooks presented in this study offer analyses with three different sets of opposing slogans of change. The outlooks also follow three different traditions of the study of television. The first outlook focuses on quantity, as it gives a longitudinal (1993-2004), macro-level view on programme structures. The methodological approach is derived from media economic and policy studies. The claims that frame the analysis are convergence versus diversification of programme structures. The second outlook provides quantitative and qualitative views on the characteristics and quality  the term signifying essence as well as worth  of Finnish television journalism during sample weeks from the years 2002 and 2003. This outlook follows the traditions of quantitative content analysis found in journalism studies coupled with descriptive qualitative content analyses. The slogans reflected in this section are the lightening or widening of journalism. The third outlook narrows down the material and focuses at a micro-level on form; that is, communicative conventions in a small array of selected programmes in 1993, 2000 and during 2002-2004. The analyses have been inspired by the method of conversation analysis of verbal interaction, and coupled with qualitative close readings, with the focus of different communicative situations in the programmes. The catchphrases employed in this part are emotainment versus democratainment, coupled with more specific claims of discursive hybridisation and conversationalisation. The findings depict that, empirically, changes in Finnish television contents are not clear linear trends and cannot easily be moulded into neat slogans. The quantitative outlook on programme output during 1993-2004 depicts a tendency towards differentiation of channels, paving the way for the multi-channel digital system. The change in programme structures, however, is not dramatic on the level of total output. The second outlook suggests that the dualistic concepts, such as the pair information-entertainment, are not sufficient in understanding the array and changes of programmes that could be called journalism. The outlook on communicative conventions highlights hybridisation in the manner of television talk and its relation to broader debates on contents. Despite the three dissimilar empirical approaches, unifying aspects emerge. The outlooks suggest, albeit in different ways, tendencies toward distinction and polarisation. This study proposes that in order to facilitate a more nuanced understanding of the changes in television contents, dualistic slogans should be replaced with a multi-dimensional understanding of the concept of diversity.

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The thesis The portrait interview as a newspaper genre. A qualitative close reading focussing on topical motifs, conventions of narration, and gender defines the portrait interview as a newspaper genre and analyses how the personalities in the portraits are constructed textually. The main body of material consists of 107 portrait interviews in two morning newspapers, Dagens Nyheter (published in Stockholm, Sweden) and Hufvudstadsbladet (published in Swedish in Helsinki, Finland), during two one-week periods (week 46/1999 and week 38/2002). There is also complementary material of 59 portraits from four magazines. The study is carried out within the research traditions of journalistic genre studies, gender and journalism, and critical text analysis. It is comprised of a qualitative close reading focussing on content (topical motifs or themes), conventions of narration, and gender. The methods used to carry out the study are qualitative close reading and quantitative content analysis. The analysis identifies the stylistic elements that differentiate the portrait genre from other journalistic genres, as well as from the autobiographical genre, and explores what opportunities and limitations these elements present for the inclusion of even more women protagonists in the portrait genre. The portrait interview is an exception from the critical mission of journalism in general, with its position as a genre of politeness. Since a typical characteristic of the portrait interview genre is that it pays tribute to the protagonist, the genre reveals the kind of personalities and lives that are seen as admirable in society. Four levels of portrait interview are defined: the prototype portrait, the pure portrait, the hybrid portrait and the marginal portrait. The prototype is a raw version of a portrait that fulfils the criteria but may be lacking in content and stylistics. The pure portrait does not lack these qualities and resembles an ideal portrait. The hybrid is a borderline case which relates to another genre or is a mixture between the portrait and some other genre, most commonly the news genre. The marginal portrait does not fulfil the criteria, and can therefore be seen as an inadequate portrait. For example, obituaries and caricatures are excluded if the protagonist s voice is never quoted. The analysis resulted in three factors that in part help to explain why the portrait interview genre has somewhat more female protagonists than journalistic news texts do in general. The four main reasons why women are presented somewhat more in the portrait genre than in other journalistic genres are: (i) women are shown as exceptions to the female norm when, for example, taking a typical male job or managing in positions where there are few women; (ii) women are shown as representing female themes ; (iii) use of the double bind as a story-generating factor; and (iv) the intimisation of journalism. The double bind usually builds up the narration on female ambiguity in the contradiction between private and public life, for example family and career, personal desire and work. The intimisation of journalism and the double bind give women protagonists somewhat more publicity also because of the tendency of portrait interviews to create conflicts within the protagonist, as an exception to journalism in general where conflicts are created or seen as existing between, for example, persons, groupings or parties. Women protagonists and their lives create an optimal narration of inner conflicts originating in the double bind as men are usually not seen as suffering from these conflicts. The analysis also resulted in gendered portrait norms: The feminine portrait norm and the masculine portrait norm or more concretely, professional life and family life as expectation and exception. Women are expected to be responsible parents and mediocre professionals, while men are expected to be professionals and in their free time engaging fathers. Key words: journalism, genre, portrait interview, gender, interview, newspaper, women s magazine.

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In this study the junction of Christian mission, Christian education and voluntary work are examined in the Christian student voluntary association Opiskelijain Lähetysliitto (OL), which is the Finnish successor to the Student Volunteer Movement. The main subjects are the structure and content of the mission education as one aspect of Lutheran education and the reasons for expressing the mission interest through voluntary work. The research questions are as follows: What kind of organization has the OL been? What has mission education been like in the OL? Why have the former chairpersons participated in the OL? How have purposiveness and intentionality arisen among the former chairpersons? The study is empirical despite having a historical and retrospective view, since the OL is explored during the period 1972 2000. The data consists of the OL s annual reports, membership applications (N=629) and interviews of all 25 former chairmen. Data is analysed by qualitative and quantitative content analysis in a partly inductive and partly deductive manner. The pedagogical framework arises from situational learning theory (Lave - Wenger 1991), which was complemented with the criteria for meaningful learning (Jonassen 1995), the octagon model of volunteer motivation (Yeung 2004) and the definitions of intentionality and purposiveness in the theory of teachers pedagogical thinking (Kansanen et al. 2000). The analysis of the archive data showed that the activities of the OL are reminiscent of those of the missions of the Finnish Evangelical Lutheran Church congregations. The biggest difference was that all OL participants were young adults, the age group that is the greatest challenge to the Church. The OL is therefore an interesting context in which to explore mission education and mission interest. The key result of the study was the forming of a model of mission educa-tion. The model has three educational components: values, goals and methods. The gist of the model is formed by the goals. The main goal is the arousing and strengthening of mission interest which has emotional, cognitive and practical aspects. The subgoals create the horizontal vertical and inward outward dimensions of the model, which are the metalevels of mission education. The subgoals reveal that societal and religious education may embody a missionary dimension when they are understood as missionary training. Further, a distinction between mission education and missionary training was observed. The former emphasizes the main goal of the model and the latter underlines the subgoals. Based on the vertical dimension of the model the study suggests that the definition of religious competence needs to be complemented with missional competence. Reasons for participating in the OL were found to be diverse as noted in other studies on volunteering and motivating factors, and were typical to young people such as the importance of social relations. The study created new motivational themes that occurred in the middle of the continuity newness and the distance proximity dimensions, which were not found in Yeung s research. Mission interest as voluntary work appeared as oriented towards one s own spirituality or towards the social community. On the other hand, mission interest was manifested as intentional education in order to either improve the community or to promote the Christian mission. In the latter case the mission was seen as a purpose in life and as a future profession. Keywords: mission, Christian education, voluntary work, mission education, mission interest, stu-dent movement

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The aim of the present study was to advance the methodology and use of time series analysis to quantify dynamic structures in psychophysiological processes and thereby to produce information on spontaneously coupled physiological responses and their behavioral and experiential correlates. Series of analyses using both simulated and empirical cardiac (IBI), electrodermal (EDA), and facial electromyographic (EMG) data indicated that, despite potential autocorrelated structures, smoothing increased the reliability of detecting response coupling from an interindividual distribution of intraindividual measures and that especially the measures of covariance produced accurate information on the extent of coupled responses. This methodology was applied to analyze spontaneously coupled IBI, EDA, and facial EMG responses and vagal activity in their relation to emotional experience and personality characteristics in a group of middle-aged men (n = 37) during the administration of the Rorschach testing protocol. The results revealed new characteristics in the relationship between phasic end-organ synchronization and vagal activity, on the one hand, and individual differences in emotional adjustment to novel situations on the other. Specifically, it appeared that the vagal system is intimately related to emotional and social responsivity. It was also found that the lack of spontaneously synchronized responses is related to decreased energetic arousal (e.g., depression, mood). These findings indicate that the present process analysis approach has many advantages for use in both experimental and applied research, and that it is a useful new paradigm in psychophysiological research. Keywords: Autonomic Nervous System; Emotion; Facial Electromyography; Individual Differences; Spontaneous Responses; Time Series Analysis; Vagal System

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The aim of this thesis was to unravel the functional-structural characteristics of root systems of Betula pendula Roth., Picea abies (L.) Karst., and Pinus sylvestris L. in mixed boreal forest stands differing in their developmental stage and site fertility. The root systems of these species had similar structural regularities: horizontally-oriented shallow roots defined the horizontal area of influence, and within this area, each species placed fine roots in the uppermost soil layers, while sinker roots defined the maximum rooting depth. Large radial spread and high ramification of coarse roots, and the high specific root length (SRL) and root length density (RLD) of fine roots indicated the high belowground competitiveness and root plasticity of B. pendula. Smaller radial root spread and sparser branching of coarse roots, and low SRL and RLD of fine roots of the conifers could indicate their more conservative resource use and high association with and dependence on ectomycorrhiza-forming fungi. The vertical fine root distributions of the species were mostly overlapping, implying the possibility for intense belowground competition for nutrients. In each species, conduits tapered and their frequency increased from distal roots to the stem, from the stem to the branches, and to leaf petioles in B. pendula. Conduit tapering was organ-specific in each species violating the assumptions of the general vascular scaling model (WBE). This reflects the hierarchical organization of a tree and differences between organs in the relative importance of transport, safety, and mechanical demands. The applied root model was capable of depicting the mass, length and spread of coarse roots of B. pendula and P. abies, and to the lesser extent in P. sylvestris. The roots did not follow self-similar fractal branching, because the parameter values varied within the root systems. Model parameters indicate differences in rooting behavior, and therefore different ecophysiological adaptations between species.