TitleAssociation analysis of candidate genes for autism and a related phenotype, non-verbal motor speech disorder
NameZimmerman, Raymond A. (author), Brzustowicz, Linda (chair), Millonig, James (internal member), Matise, Tara (internal member), Rutgers University, Graduate School - New Brunswick,
SubjectMicrobiology and Molecular Genetics,
Autism spectrum disorders,
DescriptionUsing a bead-based oligonucleotide ligation SNP genotyping assay, 102 Single Nucleotide Polymorphisms (SNPs) were analyzed in a subset of Autism Genetic Resource Exchange (AGRE) families, looking at autism and a related phenotype, Non-Verbal Motor Speech Disorder (NVMSD). The NVMSD phenotype was defined using three variables from the Autism Diagnostic Interview – Revised (ADI-R), and subjects were chosen regardless of a diagnosis of autism. Genome-wide statistical analysis based on Affymetrix 5.0 SNP data revealed two large linkage regions on chromosomes 1 and 17 in the AGRE data set. Genes of interest were then identified using a software package (Ingenuity Pathway Analysis - IPA) that provides information on gene function and associated diseases. 102 SNPs in four of the genes of interest were genotyped in the AGRE families and statistically analyzed using the KELVIN software package.
NoteIncludes bibliographical references
Noteby Raymond A. Zimmerman
CollectionGraduate School - New Brunswick Electronic Theses and Dissertations
Organization NameRutgers, The State University of New Jersey
RightsThe author owns the copyright to this work.