Genomic screen and follow-up analysis for autistic disorder

Yujun Shao, Chantelle M. Wolpert, Kimberly L. Raiford, Marisa M. Menold, Shannon L. Donnelly, Sarah A. Ravan, Meredyth P. Bass, Cate McClain, Lennart Von Wendt, Jeffery M. Vance, Ruth H. Abramson, Harry H. Wright, Allison Ashley-Koch, John R. Gilbert, Robert G. DeLong, Michael L. Cuccaro, Margaret A. Pericak-Vance

Research output: Contribution to journalArticlepeer-review

199 Scopus citations


Autistic disorder (AutD) is a neurodevelopmental disorder characterized by significant impairment in social, communicative, and behavioral functioning. A genetic basis for AutD is well established with as many as 10 genes postulated to contribute to its underlying etiology. We have completed a genomic screen and follow-up analysis to identify potential AutD susceptibility loci. In stage one of the genome screen, 52 multiplex families (two or more AutD affected individuals/family) were genotyped with 352 genetic markers to yield an approximately 10 centimorgan (cM) grid, inclusive of the X chromosome. The selection criterion for follow-up of interesting regions was a maximum heterogeneity lod score (MLOD) or a maximum nonparametric sib pair lod score (MLS) of at least 1.0. Eight promising regions were identified on chromosomes 2, 3, 7, 15, 18, 19, and X. In the stage two follow-up study we analyzed an additional 47 multiplex families (total = 99 families). Regions on chromosomes 2, 3, 7, 15, 19, and X remained interesting (MLOD ≥ 1.0) in stage two analysis. The peak lod score regions on chromosomes 2, 7, 15, 19, and X overlap previously reported peak linkage areas. The region on chromosome 3 is unique.

Original languageEnglish (US)
Pages (from-to)99-105
Number of pages7
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Issue number1
StatePublished - Jan 8 2002
Externally publishedYes


  • Autistic disorder
  • Chromosome
  • Genomic screen
  • Linkage

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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