Autism spectrum disorders, a group of developmental disorders that affect one in every 150 children, are highly heritable. Autism is thought to be caused by a number of epigenetic and genetic factors that are de novo or inherited and influenced by the environment. A useful technique to uncover genetic abnormalities is array comparative genomic hybridization (aCGH), a technique that probes suspect genes for large duplications and deletions that may contribute to the disease. Results from aCGH revealed a microdeletion in the HB85-II C/D box small nucleolar RNA (snoRNA) cluster in a patient suffering from Prader Willi Syndrome who also met criteria for Autism diagnosis. This variety of snoRNA directs chemical modifications of RNA in ribosomes, organelles that direct protein synthesis, and has also been implicated in alternative splicing of a number of different genes. To investigate if this deletion contributes to the Autism phenotype, a number of patient and familial samples were genotyped for the microdeletion and then compared to a control population. Genotyping was achieved using polymerase chain reaction to amplify the region in question and agarose gel electrophoresis to separate the alleles. Patterns of inheritance of the microdeletion did not fit predictions made based on genetic imprinting of the region, and prevalence in Autistic individuals did not differ significantly from the control population, indicating that this deletion is not a major contributor to Autism phenotype.
Kristina Pontarelli, ’09 Iowa City, IA
Majors: Biochemistry and Molecular Biology, Spanish
Sponsor: Craig Tepper