3 resultados para Expected and observed heterozygosity

em QSpace: Queen's University - Canada


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More than 10 years ago, it was suggested that sociometry and systematic observation were two potentially useful but under-utilized methods for the study of peers in youth sport (Smith, 2003). Despite this call, the methods used to study peers in sport remain largely focused on athletes' perceptions through questionnaires and interviews. Thus, the purpose of this descriptive study was to investigate the utility of sociometry in relation to sport competence and observed athlete behavior in youth sport. Three adolescent female volleyball teams were videotaped during three practice sessions, and sport competence and sociometric status were assessed using questionnaires. An observational coding system was developed and used to code athlete behaviors and data were compared across sociometric status groups. Results revealed significant differences between sociometric status groups on peer ratings of sport competence, but not on athlete behavior. However, interesting findings emerged with respect to how status groups interacted with teammates and coaches. Thus, sport competence seems to be an important factor in gaining acceptance among youth peer groups. Further, sociometry and behavioral observation appear to be useful techniques that should continue to be employed in the study of peer relations in youth sport.

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Arginase 1 deficiency, a urea cycle disorder resulting from an inability of the body to convert arginine into urea, results in hyperargininemia and sporadic episodes of hyperammonemia. Arginase 1 deficiency can lead to a range of developmental disorders and progressive spastic diplegia in children, and current therapeutic options are limited. Clustered regularly interspaced short palindromic repeat (CRISPR) /CRISPR associated protein (Cas) 9 gene editing systems serve as a novel means of treating genetic disorders such as Arginase 1 (ARG1) deficiency, and must be thoroughly examined to determine their curative capabilities. In these experiments numerous guide RNAs and CRISPR/Cas9 systems targeting the ARG1 gene were designed and observed by heteroduplex assay for their targeting capabilities and cleavage efficiencies in multiple cell lines. The CRISPR/Cas9 system utilized in these experiments, along with a panel of guide RNAs targeting various locations in the arginase 1 gene, successfully produced targeted cleavage in HEK293, MCF7, A549, K562, HeLa, and HepG2 cells; however, targeted cleavage in human dermal fibroblasts, blood outgrowth endothelial cells, and induced pluripotent stem cells was not observed. Additionally, a CRISPR/Cas system involving partially inactivated Cas9 was capable of producing targeted DNA cleavage in intron 1 of ARG1, while a Cas protein termed Cpf1 was incapable of producing targeted cleavage. These results indicate a complex set of variables determining the CRISPR/Cas9 systems’ capabilities in the cell lines and primary cells tested. By examining epigenetic factors and alternative CRISPR/Cas9 gene targeting systems, the CRISPR/Cas9 system can be more thoroughly considered in its ability to act as a means towards editing the genome of arginase 1-deficient individuals.

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Participation in organized activities is associated with many markers of positive youth development (PYD) such as improved self-esteem, social competence, and academic achievement (Mahoney et al., 2009). Sport is an extra-curricular activity that is particularly popular among youth, as nearly three quarters of Canadian children and adolescents are engaged in organized sport or physical activity (CFLRI, 2012). Much of the research in this area has examined sport programs which are explicitly structured to promote life skills or PYD outcomes; however, the sustainability of such programs has recently been called into question (Turnnidge, Hancock, & Côté, 2014). The purpose of this program of research was to conduct an in-depth case study of a successful, sustainable community youth basketball league. Study 1 was a qualitative descriptive exploration of coaches’ perceptions of the basketball league. This study provided a general overview of the structure and perceived benefits of the league, from the perspective of current coaches. Coaches highlighted the unique emphasis that the league places on fun and positive immediate sport experiences. Study 2 expanded on selected themes from Study 1, namely, the salience of the league’s culture and tendency for former players to return to the league as volunteers. This study used an ethnographic approach wherein the first author volunteered as an assistant coach on a basketball team over the course of a six-month season. This approach enabled him to gain considerable first hand insight into the organizational culture of the basketball league. The third and final study adopted a quantitative approach using both systematic observation and questionnaires to investigate the relationship between PYD outcomes and observed athlete behaviour during basketball games. A cluster analysis revealed the presence of two distinct groups of athletes characterized by relatively high and low perceptions of PYD outcomes, which were also associated with varying behavioural characteristics during competition. The results of these three studies provide a detailed blueprint of a successful youth sport program that has been sustained over 60 years. While not without limitations, many characteristics of the league should prove useful in structuring youth sport programs in other contexts.