Genetic clue to autism

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A missing piece of a chromosome could be tied to autism. A group of researchers at the University of California, Irvine, found that one of their seven-year-old patients with autism was missing a certain section of Chromosome 15. Why is this such a great discovery? It’s important because this is one of the first times that a specific genetic problem has actually been found in a person with autism. In the past, studies looked at groups of people with autism and some of the more general features of their genes, like which chromosomes might have problem genes, and whether they had one, two, or three copies of a chromosome. But in this study, researchers looked at one person at a time, to carefully focus on that person’s genes. This slow and complex process allowed researchers to create a detailed catalog of all 46 chromosomes for each autistic person, to find any missing blocks of these chromosomes.
After taking a close look at the autistic boy’s chromosomes, the scientists found that he was missing nearly 1,000 pieces of the genetic sequence on Chromosome 15. Missing pieces of chromosomes mean that some of the instructions for building the body or mind are missing. Without these instructions, the body or mind may not be built correctly. Using this discovery, scientists will try to match the missing chromosome piece to some of the genes they think play a role in autism. If they can match a gene to the missing section of the chromosome, they may be able to uncover how the gene changes the body to cause autism. These findings may also lead to treatments that correct the changes caused by the missing chromosome piece. http://www.nichd.nih.gov/publications/pubs/autism/factsheets/sub4.htm

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