Linkage Disequilibrium at the Angelman Syndrome Gene UBE3A in Autism Families

Erika L Nurmi; Yuki Bradford; Yi-hui Chen; Jenifer Hall; Brenda Arnone; Mary Beth Gardiner; Holli B Hutcheson; John R Gilbert; Margaret A Pericak-Vance; Susan A Copeland-Yates; Ron C Michaelis; Thomas H Wassink; Susan L Santangelo; Val C Sheffield; Joseph Piven; Susan E Folstein; Jonathan L Haines; James S Sutcliffe

doi:10.1006/geno.2001.6617

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Linkage Disequilibrium at the Angelman Syndrome Gene UBE3A in Autism Families

Journal article

Peer reviewed

Linkage Disequilibrium at the Angelman Syndrome Gene UBE3A in Autism Families

Erika L Nurmi, Yuki Bradford, Yi-hui Chen, Jenifer Hall, Brenda Arnone, Mary Beth Gardiner, Holli B Hutcheson, John R Gilbert, Margaret A Pericak-Vance, Susan A Copeland-Yates, …

Genomics (San Diego, Calif.), Vol.77(1-2), pp.105-113

09/2001

DOI: 10.1006/geno.2001.6617

PMID: 11543639

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Abstract

Autistic disorder is a neurodevelopmental disorder with a complex genetic etiology. Observations of maternal duplications affecting chromosome 15q11–q13 in patients with autism and evidence for linkage and linkage disequilibrium to markers in this region in chromosomally normal autism families indicate the existence of a susceptibility locus. We have screened the families of the Collaborative Linkage Study of Autism for several markers spanning a candidate region covering ∼2 Mb and including the Angelman syndrome gene (UBE3A) and a cluster of γ-aminobutyric acid (GABAA) receptor subunit genes (GABRB3, GABRA5, and GABRG3). We found significant evidence for linkage disequilibrium at marker D15S122, located at the 5′ end of UBE3A. This is the first report, to our knowledge, of linkage disequilibrium at UBE3A in autism families. Characterization of null alleles detected at D15S822 in the course of genetic studies of this region showed a small (∼5-kb) genomic deletion, which was present at somewhat higher frequencies in autism families than in controls.

15q11–q13

UBE3A

deletion

autism

linkage disequilibrium

Details

Title: Subtitle: Linkage Disequilibrium at the Angelman Syndrome Gene UBE3A in Autism Families
Creators: Erika L Nurmi - Program in Human Genetics, Department of Molecular Physiology & Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee, 37232, USA
Yuki Bradford - Program in Human Genetics, Department of Molecular Physiology & Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee, 37232, USA
Yi-hui Chen - Program in Human Genetics, Department of Molecular Physiology & Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee, 37232, USA
Jenifer Hall - Program in Human Genetics, Department of Molecular Physiology & Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee, 37232, USA
Brenda Arnone - Program in Human Genetics, Department of Molecular Physiology & Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee, 37232, USA
Mary Beth Gardiner - Program in Human Genetics, Department of Molecular Physiology & Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee, 37232, USA
Holli B Hutcheson - Program in Human Genetics, Department of Molecular Physiology & Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee, 37232, USA
John R Gilbert - Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, 27710, USA
Margaret A Pericak-Vance - Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, 27710, USA
Susan A Copeland-Yates - J. C. Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina, 29646, USA
Ron C Michaelis - J. C. Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina, 29646, USA
Thomas H Wassink - Department of Psychiatry, University of Iowa College of Medicine, Iowa City, Iowa, 52242, USA
Susan L Santangelo - Tufts University and New England Medical Center, Boston, Massachusetts, 02111, USA
Val C Sheffield - Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, Iowa, 52242, USA
Joseph Piven - University of North Carolina, Chapel Hill, North Carolina, 27599, USA
Susan E Folstein - Tufts University and New England Medical Center, Boston, Massachusetts, 02111, USA
Jonathan L Haines - Program in Human Genetics, Department of Molecular Physiology & Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee, 37232, USA
James S Sutcliffe - Program in Human Genetics, Department of Molecular Physiology & Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee, 37232, USA
Resource Type: Journal article
Publication Details: Genomics (San Diego, Calif.), Vol.77(1-2), pp.105-113
DOI: 10.1006/geno.2001.6617
PMID: 11543639
NLM abbreviation: Genomics
ISSN: 0888-7543
eISSN: 1089-8646
Publisher: Elsevier Inc
Language: English
Date published: 09/2001
Academic Unit: Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9984004182902771

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