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Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families.

Publication ,  Journal Article
Nurmi, EL; Bradford, Y; Chen, Y; Hall, J; Arnone, B; Gardiner, MB; Hutcheson, HB; Gilbert, JR; Pericak-Vance, MA; Copeland-Yates, SA; Piven, J ...
Published in: Genomics
September 2001

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 approximately 2 Mb and including the Angelman syndrome gene (UBE3A) and a cluster of gamma-aminobutyric acid (GABA(A)) 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 (approximately 5-kb) genomic deletion, which was present at somewhat higher frequencies in autism families than in controls.

Duke Scholars

Published In

Genomics

DOI

ISSN

0888-7543

Publication Date

September 2001

Volume

77

Issue

1-2

Start / End Page

105 / 113

Location

United States

Related Subject Headings

  • Ubiquitin-Protein Ligases
  • Sequence Deletion
  • Receptors, GABA-A
  • Protein Subunits
  • Polymorphism, Single Nucleotide
  • Molecular Sequence Data
  • Microsatellite Repeats
  • Male
  • Linkage Disequilibrium
  • Ligases
 

Citation

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MLA
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Nurmi, E. L., Bradford, Y., Chen, Y., Hall, J., Arnone, B., Gardiner, M. B., … Sutcliffe, J. S. (2001). Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Genomics, 77(1–2), 105–113. https://doi.org/10.1006/geno.2001.6617
Nurmi, E. L., Y. Bradford, Y. Chen, J. Hall, B. Arnone, M. B. Gardiner, H. B. Hutcheson, et al. “Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families.Genomics 77, no. 1–2 (September 2001): 105–13. https://doi.org/10.1006/geno.2001.6617.
Nurmi EL, Bradford Y, Chen Y, Hall J, Arnone B, Gardiner MB, et al. Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Genomics. 2001 Sep;77(1–2):105–13.
Nurmi, E. L., et al. “Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families.Genomics, vol. 77, no. 1–2, Sept. 2001, pp. 105–13. Pubmed, doi:10.1006/geno.2001.6617.
Nurmi EL, Bradford Y, Chen Y, Hall J, Arnone B, Gardiner MB, Hutcheson HB, Gilbert JR, Pericak-Vance MA, Copeland-Yates SA, Michaelis RC, Wassink TH, Santangelo SL, Sheffield VC, Piven J, Folstein SE, Haines JL, Sutcliffe JS. Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Genomics. 2001 Sep;77(1–2):105–113.
Journal cover image

Published In

Genomics

DOI

ISSN

0888-7543

Publication Date

September 2001

Volume

77

Issue

1-2

Start / End Page

105 / 113

Location

United States

Related Subject Headings

  • Ubiquitin-Protein Ligases
  • Sequence Deletion
  • Receptors, GABA-A
  • Protein Subunits
  • Polymorphism, Single Nucleotide
  • Molecular Sequence Data
  • Microsatellite Repeats
  • Male
  • Linkage Disequilibrium
  • Ligases