A genomic screen of autism: evidence for a multilocus etiology.

Journal Article (Journal Article)

We have conducted a genome screen of autism, by linkage analysis in an initial set of 90 multiplex sibships, with parents, containing 97 independent affected sib pairs (ASPs), with follow-up in 49 additional multiplex sibships, containing 50 ASPs. In total, 519 markers were genotyped, including 362 for the initial screen, and an additional 157 were genotyped in the follow-up. As a control, we also included in the analysis unaffected sibs, which provided 51 discordant sib pairs (DSPs) for the initial screen and 29 for the follow-up. In the initial phase of the work, we observed increased identity by descent (IBD) in the ASPs (sharing of 51.6%) compared with the DSPs (sharing of 50.8%). The excess sharing in the ASPs could not be attributed to the effect of a small number of loci but, rather, was due to the modest increase in the entire distribution of IBD. These results are most compatible with a model specifying a large number of loci (perhaps >/=15) and are less compatible with models specifying

Full Text

Duke Authors

Cited Authors

  • Risch, N; Spiker, D; Lotspeich, L; Nouri, N; Hinds, D; Hallmayer, J; Kalaydjieva, L; McCague, P; Dimiceli, S; Pitts, T; Nguyen, L; Yang, J; Harper, C; Thorpe, D; Vermeer, S; Young, H; Hebert, J; Lin, A; Ferguson, J; Chiotti, C; Wiese-Slater, S; Rogers, T; Salmon, B; Nicholas, P; Petersen, PB; Pingree, C; McMahon, W; Wong, DL; Cavalli-Sforza, LL; Kraemer, HC; Myers, RM

Published Date

  • August 1999

Published In

Volume / Issue

  • 65 / 2

Start / End Page

  • 493 - 507

PubMed ID

  • 10417292

Pubmed Central ID

  • PMC1377948

International Standard Serial Number (ISSN)

  • 0002-9297

Digital Object Identifier (DOI)

  • 10.1086/302497


  • eng

Conference Location

  • United States