Method and Kit for Diagnosing Autism Using Gene Expression Profiling

Abstract

This invention relates to DNA microarray technology, and more specifically to methods and kits for identifying autism and autism spectrum disorders in humans.

1 - 21 . (canceled) 
     
     
         22 . A method for identifying a metabolic pathway indicative of an autistic phenotype, the method comprising steps of:
 (a) obtaining a lymphoblastoid cell derived from a subject having an autism spectrum disorder; and   (b) obtaining a lymphoblastoid cell from a subject that does not have an autism spectrum disorder;   (c) extracting a nucleic acid sample from the lymphoblastoid cell obtained in step (a);   (d) extracting a nucleic acid sample from the lymphoblastoid cell obtained in step (b);   (e) performing a DNA microarray analysis on the nucleic acid samples of steps (c) and (d) to obtain an expression profile of an ensemble of genes in the cells of (a) and (b);   (f) comparing the expression level of the ensemble of genes from the samples of (c) and (d) to determine genes that are differentially expressed in the cells of (a) and (b);   (g) identifying a metabolic pathway associated with genes determined to be differentially expressed in step (f).   
     
     
         23 . The method of  claim 22  wherein the autistic phenotype comprises a severe deficit in language ability. 
     
     
         24 . The method of  claim 22  wherein the DNA microarray comprises a probe for DNA encoding a metabolic enzyme. 
     
     
         25 . The method of  claim 24 , wherein the metabolic enzyme is argininosuccinate synthetase. 
     
     
         26 . The method of  claim 24 , wherein the metabolic enzyme is 5-lipoxygenase activating protein (FLAP). 
     
     
         27 . The method of  claim 25 , further comprising measuring levels of argininosuccinate synthetase in a blood sample from the subject. 
     
     
         28 . The method of  claim 25 , further comprising measuring levels of metabolites produced by activity of argininosuccinate synthetase in a blood sample from the subject. 
     
     
         29 . The method of  claim 26  further comprising measuring levels of 5-lipoxygenase activating protein (FLAP) in a blood sample from the subject. 
     
     
         30 . The method of  claim 26  further comprising measuring levels of metabolites produced by activity of 5-lipoxygenase activating protein (FLAP) in a blood sample from the subject.