Genomic screen and follow‐up analysis for autistic disorder

Wiley - Tập 114 Số 1 - Trang 99-105 - 2002
Yujie Shao1, Chantelle M. Wolpert1, Kimberly L. Raiford1, Marisa M. Menold1, S. L. Donnelly1, Sarah A. Ravan2, Meredyth P. Bass1, Cate McClain3, Lennart von Wendt4, Jeffery M. Vance1, Ruth H. Abramson2, Harry H. Wright2, Allison Ashley‐Koch1, John R. Gilbert1, Robert DeLong5, Michael L. Cuccaro2, Margaret A. Pericak‐Vance1
1Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina
2W.S. Hall Psychiatric Institute, University of South Carolina, Columbia, South Carolina
3University of New Mexico, Albuquerque, New Mexico
4Helsinki University Central Hospital, Helsinki, Finland.
5Division of Neurology, Pediatrics, Duke University Medical Center, Durham, North Carolina

Tóm tắt

AbstractAutistic 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. © 2001 Wiley‐Liss, Inc.

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Wiley

Tập 114 Số 1

99-105

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