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October 16, 2008

Screening Method Detects Known Chromosomal Abnormalities Associated with Autism

  • A team of researchers report the effectiveness of multiplex ligation-dependent probe amplification (MLPA) as a screen for autism spectrum disorders (ASDs). Using this technique, they also identified some new genetic changes that are likely to contribute to ASD, including extra copies of genetic material in chromosomes 15 and 22.

    The studies did show some limitations of MLPA, where single base changes in probe binding sequences alter results, the researchers note. Yet they believe that MLPA, with a focus on accepted medical genetic conditions, may be an inexpensive method for detection of microdeletions and microduplications in ASD patients if MLPA-identified deletions are validated by additional methods.

    In this study, the scientists used MLPA on a group of 279 children with ASD. “By focusing on well-known genetic disorders, rather than assaying an individual's entire genome, MLPA allows for much more efficiency,” says Joseph Buxbaum, Ph.D., Mount Sinai School of Medicine.

    The article, published by researchers from the Mount Sinai School of Medicine, appears in BMC Medical Genomics.