Objetivo
We aim to identify susceptibility alíeles for autism spectrum disorders. To achieve this aim the main research groups in Europe will pool data and laboratory resources and exploit the potential of European genetically ¡so ated populations. The Autism STREP group of clinical researchers and laboratory scientists will pool data from 425 previously ascertained multiplex families and perform a meta-analysis to identify the top 6 susceptibility regions for autism spectrum disorders The fine mapping data on chromosomes 6q and 7q will also be analysed for parent of origin effects. Over the course of the project the group, working closely with national voluntary organisations will assess and genotype approximately 300 new multiplex and over 700 new singleton families to increase power to narrow these regions of linkage. The top susceptibility regions will be tested in genetically isolated populations of Finnish and Friesland singleton trios to search for extended haplotypes that may further refine the critical regions. Subsequently brain expressed candidate genes in these narrowed six regions of linkage will be tested for mutations and association with autism. This will involve screening candidate gen-as for mutations in sharing multiplex families by DHPLC. Additionally single nucleotide polymorphisms (SNPs) fiom the public databases that tag the haplotypic diversity across these genes will be identified in the multiplex and singleton samples. New variants and haplotype tag SNP's will be screened for association in both multiplex and singleton families. The members of this group have previously identified a number of potential candidate genes that will be tested for mutations/association in the enlarged sample of multiplex families. These genes include Reelin, LAMB1, CGEF2, GluR6 and several neuroligin genes. The results of these studies will be published in peer reviewed journals and also communicated more broadly to the interested public.
Ámbito científico
Convocatoria de propuestas
FP6-2003-LIFESCIHEALTH-I
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Régimen de financiación
STIP - Specific Targeted Innovation ProjectCoordinador
OXFORD
Reino Unido