06-05-2006, 06:29 PM
Quote:
Population Genetic Mapping Study of Autism in Costa Rica
We have a population genetic study of autism ongoing in the Central Valley of Costa Rica. The population of the CVCR began with only a few founding families and grew exponentially in isolation until the 1970s. This type of genetically isolated founder population may be useful for mapping complex genetic traits. Although autism is a highly heritable disorder, it now appears that submicroscopic chromosomal abnormalities may explain a significant fraction of atypical cases. Additionally, these microdups/dels may harbor autism susceptibility genes. Array-based Comparative Genomic Hybridization, or aCGH, is a novel technology for high-throughput detection of both known and novel microdups/dels including sub-telomeric abnormalities. We are screening our autism cases using this technology in order to identify known and novel cytogenetic abnormalities associated with autism and to identify possible genotype-phenotype correlations which may help us find underlying autism susceptibility genes. A simplified version of this technology is currently in use for prenatal testing of other developmental disorders.
We have a population genetic study of autism ongoing in the Central Valley of Costa Rica. The population of the CVCR began with only a few founding families and grew exponentially in isolation until the 1970s. This type of genetically isolated founder population may be useful for mapping complex genetic traits. Although autism is a highly heritable disorder, it now appears that submicroscopic chromosomal abnormalities may explain a significant fraction of atypical cases. Additionally, these microdups/dels may harbor autism susceptibility genes. Array-based Comparative Genomic Hybridization, or aCGH, is a novel technology for high-throughput detection of both known and novel microdups/dels including sub-telomeric abnormalities. We are screening our autism cases using this technology in order to identify known and novel cytogenetic abnormalities associated with autism and to identify possible genotype-phenotype correlations which may help us find underlying autism susceptibility genes. A simplified version of this technology is currently in use for prenatal testing of other developmental disorders.
http://ww w.mssm.edu/psychiatry/neuro_genetics/ (broken link)