Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/3627
Título: Genetic diversity of Lysosomal Storage Disorders in Portugal
Autor: Amaral, Olga
Palavras-chave: Doenças Genéticas
Rare Diseases
Lysosomal Disorders
Genetics
Data: 3-Jul-2015
Resumo: Since the beginning of the analysis of mutations causal of Lysosomal Storage Diseases (LSDs) it became perceptible that the Portuguese presented distinct disease and mutational patterns from those of other populations. Some LSDs, such as Gangliosidosis GM2 (GM2), Metachromatic Leukodystrophy (MLD), Gaucher Disease (GD), Mucopolysaccharidosis type I (MPS I) and even Niemann Pick type C1 (NPC1) were noted for their relevance in terms of their representation in the Portuguese population. Concomitantly, other diseases seemed to be under represented (Pinto et al, 2004). In terms of causal mutations there were particular patterns of diversity which raised interest and led to the determination of the frequency of specific mutations in the Portuguese population. The patterns encountered were sometimes indicative of founder effects and of particular population demographic movements, which were later confirmed by the study of the haplotypes associated with the mutations. In this work we carried out three population screenings in order to establish the frequency of different mutations associated with variant B1 of GM2, MPS I and the infantile form of MLD. Such studies allowed the evaluation of the respective frequencies.
Descrição: Palestra por convite da organização da Conferência.
Palestra em contexto de ação de formação avançada: "Pursuant to Regulation of Minister of Health of 06 October 2004 concerning methods of fulfilling the professional training requirement for physicians and dentists, participants of the conference will be granted educational points"
Peer review: yes
URI: http://hdl.handle.net/10400.18/3627
Versão do Editor: http://chorobyrzadkie.pl/materialy/plan.konferencji.en.2015.pdf
Aparece nas colecções:DGH - Apresentações orais em encontros internacionais

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