Identifying and Understanding the Actions of Autism Susceptibility Genes

This research involved the search of two regions of peak linkage (on chromosomes 2q and 7q) for Single Nucleotide Polymorphisms (SNPs) that may be in linkage disequilibrium with autism susceptibility alleles. Dr. Monaco’s analysis of linkage on chromosome 7q with regards to parent of origin effects indicated that there may be two genes in this region of chromosome 7q, one paternally linked and the other maternally linked in separate areas. To pursue this finding, the NLM Family Foundation supported the search for the paternally and maternally linked regions on chromosome 7q with high density SNPs to test for association. Knowledge of parent of origin effects should allow Dr. Monaco to test genes in the two regions for imprinting (expression from only one chromosome depending on its parent of origin) using both molecular and bioinformatics approaches, thus speeding up his localization and identification of autism susceptibility genes.