Skip to main content
construction release_alert
Scholars@Duke will be undergoing maintenance April 11-15. Some features may be unavailable during this time.
cancel
Journal cover image

Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder.

Publication ,  Journal Article
Shao, Y; Raiford, KL; Wolpert, CM; Cope, HA; Ravan, SA; Ashley-Koch, AA; Abramson, RK; Wright, HH; DeLong, RG; Gilbert, JR; Cuccaro, ML ...
Published in: Am J Hum Genet
April 2002

Autistic disorder (AutD) is a neurodevelopmental disorder characterized by significant disturbances in social, communicative, and behavioral functioning. A two-stage genomic screen analysis of 99 families with AutD revealed suggestive evidence for linkage to chromosome 2q (D2S116 nonparametric sib-pair LOD score [MLS] 1.12 at 198 cM). In addition, analysis of linkage disequilibrium for D2S116 showed an allele-specific P value of <.01. Recently, linkage to the same region of 2q was reported in an independent genome screen. This evidence for linkage increased when analysis was restricted to the subset of patients with AutD who had delayed onset (>36 mo) of phrase speech (PSD). We similarly classified our data set of 82 sib pairs with AutD, identifying 45 families with AutD and PSD. Analysis of this PSD subset increased our support for linkage to 2q (MLS 2.86 and HLOD 2.12 for marker D2S116). These data support evidence for a gene on chromosome 2 contributing to risk of AutD, and they suggest that phenotypic homogeneity increases the power to find susceptibility genes for AutD.

Duke Scholars

Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

April 2002

Volume

70

Issue

4

Start / End Page

1058 / 1061

Location

United States

Related Subject Headings

  • Speech Disorders
  • Phenotype
  • Models, Genetic
  • Lod Score
  • Linkage Disequilibrium
  • Humans
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Genetic Heterogeneity
  • Genes, Recessive
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Shao, Y., Raiford, K. L., Wolpert, C. M., Cope, H. A., Ravan, S. A., Ashley-Koch, A. A., … Pericak-Vance, M. A. (2002). Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. Am J Hum Genet, 70(4), 1058–1061. https://doi.org/10.1086/339765
Shao, Yujun, Kimberly L. Raiford, Chantelle M. Wolpert, Heidi A. Cope, Sarah A. Ravan, Allison A. Ashley-Koch, Ruth K. Abramson, et al. “Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder.Am J Hum Genet 70, no. 4 (April 2002): 1058–61. https://doi.org/10.1086/339765.
Shao Y, Raiford KL, Wolpert CM, Cope HA, Ravan SA, Ashley-Koch AA, et al. Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. Am J Hum Genet. 2002 Apr;70(4):1058–61.
Shao, Yujun, et al. “Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder.Am J Hum Genet, vol. 70, no. 4, Apr. 2002, pp. 1058–61. Pubmed, doi:10.1086/339765.
Shao Y, Raiford KL, Wolpert CM, Cope HA, Ravan SA, Ashley-Koch AA, Abramson RK, Wright HH, DeLong RG, Gilbert JR, Cuccaro ML, Pericak-Vance MA. Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. Am J Hum Genet. 2002 Apr;70(4):1058–1061.
Journal cover image

Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

April 2002

Volume

70

Issue

4

Start / End Page

1058 / 1061

Location

United States

Related Subject Headings

  • Speech Disorders
  • Phenotype
  • Models, Genetic
  • Lod Score
  • Linkage Disequilibrium
  • Humans
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Genetic Heterogeneity
  • Genes, Recessive