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Mette Gilling Nielsen

Mette Gilling Nielsen

Ph.d. student / Ph.d. studerende

Chromosomal abnormalities and putative susceptibility genes in autism spectrum disorders

The aim of the project is to identify and characterise genes associated with autism. Genetic materials from autistic patients with chromosomal aberrations are made available through an international collaboration. Three patients with translocation breakpoints in the chromosomal regions 16p and 18q are the basis for this study. Both chromosomal regions have been suggested as likely candidate regions for genes associated with autism. Mapping the translocation breakpoints using the FISH technique will identify genes that are inactivated or deleted as a result of a translocation. Using this approach I have already located an approximately 3 Mb deletion on one chromosome in one of the three the patients so the patient is missing the 14 genes encoded in this region. A group of autistic people and a control group will be screened for mutations/polymorphism’s in any of the candidate genes found by FISH suggesting if the genes are involved in the development of autism. Furthermore, identified candidate genes will be used in expression analysis and functional analysis to verify their function in autism. This project can potentially lead to a breakthrough in our understanding of the biological causes of autism and the cognitive functions of the human brain. Increased knowledge about autism might improve the genetic counselling on autism and possibly contribute to development of new treatments


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