20 resultados para Autosomal recessive inheritance
Resumo:
Approximately 20 % of individuals with Parkinson's disease (PD) report a positive family history. Yet, a large portion of causal and disease-modifying variants is still unknown. We used exome sequencing in two affected individuals from a family with late-onset PD to identify 15 potentially causal variants. Segregation analysis and frequency assessment in 862 PD cases and 1,014 ethnically matched controls highlighted variants in EEF1D and LRRK1 as the best candidates. Mutation screening of the coding regions of these genes in 862 cases and 1,014 controls revealed several novel non-synonymous variants in both genes in cases and controls. An in silico multi-model bioinformatics analysis was used to prioritize identified variants in LRRK1 for functional follow- up. However, protein expression, subcellular localization, and cell viability were not affected by the identified variants. Although it has yet to be proven conclusively that variants in LRRK1 are indeed causative of PD, our data strengthen a possible role for LRRK1 in addition to LRRK2 in the genetic underpinnings of PD but, at the same time, highlight the difficulties encountered in the study of rare variants identified by next-generation sequencing in diseases with autosomal dominant or complex patterns of inheritance.
Resumo:
This paper develops a framework of risk and protective factors to conceptualise the relationship between HIV-related stigma, asset inheritance and chronic poverty among widows and caregiving children and youth in eastern Africa. Analysis of two qualitative studies with 85 participants in rural and urban areas of Tanzania and Uganda reveals that gendered and generational inequalities and stigmatisation sometimes led to property grabbing and chronic poverty. Human and social capital and preventative measures however may help widows and caregiving young people in HIV-affected households to safeguard land and other assets, within a wider supportive environment that seeks to tackle structural inequalities.
Resumo:
This article explores the role of women's inheritance and ownership of property in urban Senegal. It shows how being able to inherit and own property promotes the economic and emotional security of widows and their children in urban areas, and discusses the challenges posed by legal pluralism in working on poverty alleviation and social protection in the city.
Resumo:
Although women's land rights are often affirmed unequivocally in constitutions and international human rights conventions in many African countries, customary practices usually prevail on the ground and often deny women's land inheritance. Yet land inheritance often goes unnoticed in wider policy and development initiatives to promote women's equal access to land. This paper draws on feminist ethnographic research among the Serer ethnic group in two contrasting rural communities in Senegal. Through analysis of land governance, power relations and 'technologies of the self', this article shows how land inheritance rights are contingent on the specific effects of intersectionality in particular places. The contradictions of legal pluralism, greater adherence to Islam and decentralisation led to greater application of patrilineal inheritance practices. Gender, religion and ethnicity intersected with individuals' marital position, status, generation and socio-ecological change to constrain land inheritance rights for women, particularly daughters, and widows who had been in polygamous unions and who remarried. Although some women were aware that they were legally entitled to inherit a share of the land, they tended not to 'demand their rights'. In participatory workshops, micro-scale shifts in women's and men's positionings reveal a recognition of the gender discriminatory nature of customary and Islamic law and a desire to 'change with the times'. While the effects of 'reverse' discourses are ambiguous and potentially reinforce prevailing patriarchal power regimes, 'counter' discourses, which emerged in participatory spaces, may challenge customary practices and move closer to a rights-based approach to gender equality and women's land inheritance.