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.
| Ashley-Koch, Allison E; Jaworski, James; Ma, De Qiong et al. (2007) Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk. Psychiatr Genet 17:221-6 |
| Ashley-Koch, A E; Mei, H; Jaworski, J et al. (2006) An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder. Ann Hum Genet 70:281-92 |
| Ma, D Q; Jaworski, J; Menold, M M et al. (2005) Ordered-subset analysis of savant skills in autism for 15q11-q13. Am J Med Genet B Neuropsychiatr Genet 135B:38-41 |
| Skaar, D A; Shao, Y; Haines, J L et al. (2005) Analysis of the RELN gene as a genetic risk factor for autism. Mol Psychiatry 10:563-71 |
| Raiford, K L; Shao, Y; Allen, I C et al. (2004) No association between the APOE gene and autism. Am J Med Genet B Neuropsychiatr Genet 125B:57-60 |
| Carney, Regina M; Wolpert, Chantelle M; Ravan, Sarah A et al. (2003) Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol 28:205-11 |
| Shao, Yujun; Cuccaro, M L; Hauser, E R et al. (2003) Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. Am J Hum Genet 72:539-48 |
| Shao, Yujun; Raiford, Kimberly L; Wolpert, Chantelle M et al. (2002) Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. Am J Hum Genet 70:1058-61 |
| Shao, Yujun; Wolpert, Chantelle M; Raiford, Kimberly L et al. (2002) Genomic screen and follow-up analysis for autistic disorder. Am J Med Genet 114:99-105 |
| 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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