Pérdida de heterocigocidad e identificación de portadoras de distrofia muscular de Duchenne: un caso familiar con evento de recombinación*

La distrofia muscular de Duchenne y Becker (DMD/DMB) es una entidad de herencia recesiva ligada al cromosoma X que se presenta con debilidad muscular y es causada por mutaciones en el gen de la distrofina. La pérdida de heterocigocidad permite identificar a las mujeres portadoras de deleción en el gen de la distrofina mediante haplotipos. Objetivo: identificar mujeres portadoras en una familia con un paciente afectado de DMD mediante análisis de pérdida de heterocigocidad. Materiales y métodos: se analizaron nueve miembros de una familia con un afectado de DMD. Se hizo extracción de ADN y amplificación de diez STR del gen de la distrofina; se construyeron haplotipos, y se determinó el estado de portadora de deleción en dos de las seis mujeres analizadas, quienes mostraron pérdida de heterocigocidad de tres STR. Se establecieron algunos eventos de recombinación. Resultados: Dos de las seis mujeres analizadas, mostraron perdida de heterocigocidad en tres de los diez STR genotipificados, indicando su estado de portadora de deleción en este fragmento del gen de la Distrofina Con la segregación familiar de los haplotipos se establecieron eventos de recombinación. Conclusiones: mediante pérdida de heterocigocidad es posible establecer el estado de portadora de deleción en el gen de la distrofina con un 100% de certeza. La construcción de haplotipos identifica el cromosoma X portador de la deleción en familiares del caso índice. Se evidenció un evento de recombinación en una de las hermanas del afectado, lo que hace indeterminado su estado de portadora.

The incidents of housing policies in the process of nesting the urban space (Buenos Aires, 1870-1999)

This article describes the housing policies displayed historically in B.A. that affected the processes of configuration and of giving hierarchy to the urban space. Since the process of modernization of B.A., at the end of the XIXth century, housing measures, urbanistic projects and political decisions have influenced the building of the city and the space distribution of their inhabitants: in this way, they have integrated some people and excluded others. No wonder, that, historically, popular sectors have established themselves in the South of the city (and in outskirt villages). These zones have been disregarded by the state, which has invested less in these areas. We will see how the connection between state housing policies and the population redistribution in the city, confirms the persistence of a strong process of urban and residential segregation that tends to expel the inhabitants of popular sectors and to attract the ones of the middle-class and high class sectors.

Sustainable urban criteria in the urban periphery of Guadalajara

The study of the growth of large cities, in the urban periphery or the peri-urban areas specifically, it relates to environmental degradation due to urbanization, if it is estimated that since 2008 more than half of the world population living in urban areas, this sector is affected as it presents overcrowding, segregation and deterioration of physical conditions, which will impact on the social aspects within localities. This great urban growth has usually developed with the lack of environmental planning.So it is necessary to include urban development, guidelines towards environmental conservation and rehabilitation of the territory. The future of cities will depend largely on the actions taken now. As urban development inevitably requires planning urban settlements through sustainable development so as to provide alternative technologies, based on the reality of Latin American countries.In the peripheral area of the Metropolitan Zone of Guadalajara, is taken as a case study of the town of La Venta del Astillero, which by its nature allows access and functionality to develop a set of criteria and indicators to urban sustainability, which can take as a model for other communities in the urban periphery.