The purpose of this proposal is to isolate genes involved in autistic disorder (AD). The gene hunt will focus on chromosome 15q11-q13 because of recent evidence, some of it from the investigator's laboratory, that this region is linked to AD. The first set of aims is to develop markers from genomic contigs to genetically fine map the region in AD families in order to define regions of high recombination as closely as possible and determine the most likely location of the AD locus. The families will also be examined for methylation abnormalities and chromosomal duplications, insertion, deletions, or inversions. The second set of aims revolves around the isolation and analysis of AD candidate genes for direct identification of causative mutations.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Project (R01)
Project #
5R01HD036701-03
Application #
6181764
Study Section
Human Development and Aging Subcommittee 3 (HUD)
Program Officer
Hanson, James W
Project Start
1998-07-01
Project End
2003-06-30
Budget Start
2000-07-01
Budget End
2001-06-30
Support Year
3
Fiscal Year
2000
Total Cost
$359,739
Indirect Cost
Name
Duke University
Department
Internal Medicine/Medicine
Type
Schools of Medicine
DUNS #
071723621
City
Durham
State
NC
Country
United States
Zip Code
27705
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McCoy, Pinky A; Shao, Yujun; Wolpert, Chantelle M et al. (2002) No association between the WNT2 gene and autistic disorder. Am J Med Genet 114:106-9

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