Causes Of Autism

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ABSTRACT
Autism is a neurodevelopment disorder characterized by impaired social interaction, communication deficiency and repetitive behaviors. It affects millions of people globally including children of young age. Autism is highly inheritable, however, specific genes have yet to be directly associated with autism.
This research focuses on analyzing a set of publicly accessible gene expression data from blood samples of a group of children with autism and a group of children without (control group). The gene expression data were collected from peripheral blood lymphocyte samples from 146 children (77 with autism, 69 without) by researchers at University of Pennsylvania who designed an experiment to investigate global level gene expression …show more content…
Microarray-based gene expression profiling technology significantly advances large-scale gene discovery [2]. Researchers have been using this technology to map the gene expression from the blood samples of children with autism and without to compare the gene expression differences [3] [4].
This research focuses on analyzing a set of publicly accessible gene expression data from blood samples of a group of children with autism and a control group. Statistical analyses have been used to detect significant gene expression differences between the autism and the control group. Multiple testing corrections have also been applied to control the family-wise error rate (FWER) and false detection rate (FDR) form the large number of simultaneous hypothesis testing. A set of genes with significant differences has been identified, which can provide indications for future autism genetic …show more content…
All subjects were primarily Caucasian boys aging from 3 to 11 year old from the Phoenix, Arizona area. Children with autism had diagnosis from medical professionals. The children in the control group were recruited through scout, church and sports groups. Blood samples were taken within a few month time span in 2004. Gene expression profiling was performed, where total RNA was extracted from PBL samples. The Affymetrix Human Genome Arrays were used to measure the expression levels of 54,675 probe set, which covered 47,000 unique transcripts including 38,500 characterized human genes. The arrays were scanned to extract raw signal intensity values per RNA set. A scaling factor of 150 was used to normalize the array signal intensity. The arrays were scanned in 1 day on 2 different machines and divided into two batches based on which machine it went through. The comparison groups were balanced between the 2 batches. Batch 1 had 31 autism subjects and 37 control subjects, while Batch 2 had 46 autism subjects and 32 control subjects. A limited number of array samples were rescanned to make sure that there were no significant differences between machines [4]. All subjects were de-identified before the
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