MOLECULAR CYTOGENETICS AND GENOMICS OF AUTISM
Genomic and molecular genetic studies of autism can identify new biological markers to determine the etiology and the molecular
and cellular mechanisms of the pathogenesis of this disease. In addition to the fundamental importance of this research the laboratory
diagnosis of autism is significant for identification of the risk factors for the disease as well as for genetic counseling of families with
autistic children. Recent advances in molecular genetic studies of autism are based on the application of post-genomic and molecular
cytogenetic techniques, including methods for genome-wide scan (molecular karyotyping using DNA microarrays) and the analysis of
genetic changes in the cells of the brain by virtue of fluorescent detection for in situ hybridization. This short review summarizes the recent
data on translational research in autism directed to the diagnosis and treatment of this disease in the light of recent advances in the field
of personalized (genomic) medicine.
Keywords:
autism, mental retardation, molecular karyotyping, the variation of the genome, genomic abnormalities, chromosomal
microaberrations