Harvard Mental Health Letter

In Brief: Chromosome "hot spot" linked to autism

In Brief

Chromosome "hot spot" linked to autism

Autism Consortium researchers reported in 2008 that the deletion or duplication of an area on chromosome 16 may account for about 1% of all cases of autism. Although the impact of the finding might seem small, the report generated considerable excitement in the research community because it represents a new way of identifying genetic factors responsible for autism and other complex brain disorders, which typically develop from the interaction of multiple genes, each exerting relatively small effect.

The researchers analyzed genetic data from the Autism Genetic Resource Exchange, which has collected blood samples and clinical information from more than 3,000 individuals with autism spectrum disorders. The scientists used a new type of gene chip technology that enabled them not only to identify subtle genetic changes but also to detect something known as "copy number variation" to determine whether certain genes were deleted or duplicated.

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