Browsing by Subject "Parent"

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Open Access
Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair
(B M J Group, 2014) Dal, G. M.; Ergüner, B.; Saǧıroǧlu, M. S.; Yüksel, B.; Onat, O. E.; Alkan C.; Özçelik, T.
Background: Human de novo single-nucleotide variation (SNV) rate is estimated to range between 0.82-1.70×10-8 mutations per base per generation. However, contribution of early postzygotic mutations to the overall human de novo SNV rate is unknown. Methods: We performed deep whole-genome sequencing (more than 30-fold coverage per individual) of the whole-blood-derived DNA samples of a healthy monozygotic twin pair and their parents. We examined the genotypes of each individual simultaneously for each of the SNVs and discovered de novo SNVs regarding the timing of mutagenesis. Putative de novo SNVs were validated using Sanger-based capillary sequencing. Results: We conservatively characterised 23 de novo SNVs shared by the twin pair, 8 de novo SNVs specific to twin I and 1 de novo SNV specific to twin II. Based on the number of de novo SNVs validated by Sanger sequencing and the number of callable bases of each twin, we calculated the overall de novo SNV rate of 1.31×10-8 and 1.01×10-8 for twin I and twin II, respectively. Of these, rates of the early postzygotic de novo SNVs were estimated to be 0.34×10-8 for twin I and 0.04×10-8 for twin II. Conclusions: Early postzygotic mutations constitute a substantial proportion of de novo mutations in humans. Therefore, genome mosaicism resulting from early mitotic events during embryogenesis is common and could substantially contribute to the development of diseases.
Open Access
Parents’ and children’s perception of restaurant inclusivity
(2021-07) Altıntepe, Büşra
Restaurants are public spaces which everyone has the equal right to access. It matters how inclusive the restaurants are for parents and children. However, the issue of restaurant inclusiveness from the family and child perspective has not been a frequent focus on previous studies. This study aims to understand how parents and children perceive restaurants’ inclusivity and to examine whether there are any differences in perceptions of them or not. Furthermore, it aims to see parents’ and children’s priorities in a restaurant with a comparative approach. Moreover, it addresses if there are any notable functions of the restaurant besides eating for parents and children. A mixed methodological approach was used for the study. An online questionnaire was conducted with 40 parents, one-to-one interviews were carried out with 60 children, and interviews were supported with a drawing method, including the drawings of 30 of the children who participated in the study. The findings of the study show that there are differences between the perceptions and priorities of the parents and children in a restaurant environment. Additionally, restaurants have other notable functions besides eating for parents’ and children. Especially children perceive the restaurant as a public space that allows them to play and socialize. Furthermore, children’s drawing analysis method was applied in a restaurant inclusivity context for the first time and confirmed that the use of mixed methodology is beneficial for children’s studies. This study helps to improve the knowledge about parent and child inclusivity in restaurant environments and also, it contributes to designers and restaurateurs regarding family inclusivity by offering recommendations and reasonable adjustments to increase inclusivity.