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Updated: Jun 23, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Genome-wide linkage in Utah autism pedigrees.

K Allen-Brady¹, R Robison, D Cannon

¹Utah Autism Research Project, Department of Psychiatry, University of Utah, Salt Lake City, UT 84108, USA.

Molecular Psychiatry

|May 21, 2009

Summary

This summary is machine-generated.

This study identified significant genetic linkage regions for autism spectrum disorder (ASD) on chromosome 15q using large pedigrees. Findings on 15q replicate previous research, aiding the search for autism susceptibility genes.

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Area of Science:

Genetics
Neurodevelopmental Disorders
Human Pedigree Studies

Background:

Autism spectrum disorder (ASD) genetics are complex, involving multiple genes.
Large extended pedigrees are valuable for identifying specific susceptibility genes amidst genetic heterogeneity.
Previous studies have suggested various chromosomal regions associated with ASD.

Purpose of the Study:

To conduct a genome-wide scan in 70 families, including 20 large extended pedigrees, to identify genetic loci linked to autism spectrum disorder (ASD).
To leverage the power of large families to discern specific autism susceptibility genes.
To replicate and refine findings from previous ASD genetic studies.

Main Methods:

Genome-wide genotyping of 192 individuals with ASD and 461 relatives using the Illumina Linkage Panel 12 (6K SNP platform).
Analysis of 70 families comprising large extended, moderate-sized, and smaller family structures.
Statistical analysis to determine genome-wide significance using heterogeneity LOD (HLOD) scores.

Main Results:

Genome-wide significant linkage was detected on chromosome 15q, with three distinct peaks (HLODs ranging from 3.59 to 5.31).
Two of the identified 15q linkage peaks replicate findings from earlier studies.
Suggestive linkage results were also observed on chromosomes 2p, 7q, and 13q.

Conclusions:

Chromosome 15q harbors significant genetic loci associated with autism spectrum disorder (ASD).
The findings reinforce the importance of 15q in ASD etiology and validate prior research.
No strong evidence for distinct phenotypic subgroups was found among families supporting the linkage peaks.