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Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity.


ABSTRACT: Although there is considerable evidence for a strong genetic component to idiopathic autism, several genomewide screens for susceptibility genes have been performed with limited concordance of linked loci, reflecting either numerous genes of weak effect and/or sample heterogeneity. Because decreasing sample heterogeneity would increase the power to identify genes, the effect on evidence for linkage of restricting a sample of autism-affected relative pairs to those with delayed onset (at age >36 mo) of phrase speech (PSD, for phrase speech delay) was studied. In the second stage of a two-stage genome screen for susceptibility loci involving 95 families with two or more individuals with autism or related disorders, a maximal multipoint heterogeneity LOD score (HLOD) of 1.96 and a maximal mul

SUBMITTER: Buxbaum JD 

PROVIDER: S-EPMC1226139 | biostudies-literature | 2001 Jun

REPOSITORIES: biostudies-literature