Combined linkage and linkage disequilibrium analysis of a motor speech phenotype within families ascertained for autism risk loci.

ABSTRACT: Using behavioral and genetic information from the Autism Genetics Resource Exchange (AGRE) data set we developed phenotypes and investigated linkage and association for individuals with and without Autism Spectrum Disorders (ASD) who exhibit expressive language behaviors consistent with a motor speech disorder. Speech and language variables from Autism Diagnostic Interview-Revised (ADI-R) were used to develop a motor speech phenotype associated with non-verbal or unintelligible verbal behaviors (NVMSD:ALL) and a related phenotype restricted to individuals without significant comprehension difficulties (NVMSD:C). Using Affymetrix 5.0 data, the PPL framework was employed to assess the strength of evidence for or against trait-marker linkage and linkage disequilibrium (LD) across the genome.

SUBMITTER: Flax JF 

PROVIDER: S-EPMC2974936 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature