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Abstracts | GENETICS 2010: Model Organisms to Human Biology

http://www.mohb.org/cgi-bin/mohb10-cgi/absu.pl

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Abstract was revised on 2010-03-29 18:00:16 (US ET) Name & Address: Olga Amaral , PhD Department of Genetics INSA,IP (CGMJM, Porto) Pr. Pedro Nunes 88 4099-028 Porto, Portugal, Porto 4099-028 Portugal TEL: 351- 962612725 EMAIL: olga.amaral@insa.min-saude.pt Presentation Preference: Poster Session Topic Area: 01. Personal genomics Authors: Olga Amaral1, Ana Duarte1, Diogo Ribeiro1, Isaura Ribeiro1, Eugenia Pinto1, Pedro Oliveira2 Institutions: 1) Department of Genetics, INSA,IP (CGMJM, Porto), Porto, Portugal; 2) Department of Production and Systems, University of Minho, Portugal Title: GENETIC DIVERSITY IN LYSOSOMAL DISORDERS IN PORTUGAL Text: In Portugal, analysis of mutations causal of Lysosomal Storage Diseases (LSDs) began about 20 years ago at the CGMJM in Porto. In the early years it was already apparent 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 whereas others seemed to be underrepresented (Pinto et al, 2004). The fact that in terms of causal mutations there were curious patterns of diversity, raised interest and led to the determination of the frequency of particular mutations in the Portuguese population. The patterns encountered were indicative of founder effects and of particular population demographic movements, which were later confirmed by the study of the haplotypes associated with various mutations. Presently, we are carrying 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. The results so far obtained point to a higher frequency of carriers in the case of the two most frequent mutations associated with variant B1 of GM2 and MPS I. Such studies will have impact on the community through the evaluation of carrier frequencies and population genetics patterns, development of diagnosis strategies and even therapeutic management. Financial support: Fundao para a Cincia e Tecnologia (FCT) PIC/IC/82822/2007; O.A. is the P.I.; both A.D. and D.R. are recipients of grants from FCT, and they contributed equally to the work here presented. If you have included a table in your abstract, it may not appear to be accurately formatted on this confirmation (due to possible wrapping). It is important that you fax a copy of all tables formatted as you wish them to appear to Anne Marie Mahoney, Meeting Manager, at (301) 634-7079, by March 29, 2010. Be certain to include your name as presenting(submitting) author, the title of your abstract, the abstract control number, and your telephone number or email address.

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29-03-2010 22:57

Abstracts | GENETICS 2010: Model Organisms to Human Biology

http://www.mohb.org/cgi-bin/mohb10-cgi/absu.pl

2 de 2

29-03-2010 22:57