Through the efforts of the Human Genome Initiative (HGI), maps of highly polymorphic markers with a spacing of 1-2 cM are available for all the chromosomes. These accurate and well-defined genetic maps of highly polymorphic markers of the microsatellite and SNP varieties are available for the efficient and rapid mapping of single gene disorders. Furthermore, they provide the foundation for comprehensive studies of complex polygenic or multi-factorial traits such as heart disease, psychiatric disorders, and cancer neoplasms. ? ? Although the process of mapping single gene disorders is straightforward, it is still a long and detailed process that involves family collection, laboratory experiments, and computer analysis. In order to successfully move into the next phase of disease gene mapping, and thus attain one of the primary goals of the Human Genome Initiative, it is critical that physician scientists and laboratory scientists be educated with respect to pedigree ascertainment, sampling and basic gene localization experimental design along with understanding the plethora of analytic tools available. We will emphasize concepts and resources, rather than specific methodologies. Discussions will include sample collection and ascertainment, methods of linkage analysis with emphasis on complex trait analysis, use of molecular biological tools, and examining gene/gene and gene/environment interactions. Web-based modules will be expanded to include three new concepts (affected sibling pair studies, association studies, and epidemiologic design) and a web-based component for critical review of the literature will be implemented. We propose to continue offering a comprehensive four-day course directed towards the physician scientist that will instruct him or her on how to capitalize on the available data tools. ? ?
| Sharp, Madeleine E; Caccappolo, Elise; Mejia-Santana, Helen et al. (2015) The relationship between obsessive-compulsive symptoms and PARKIN genotype: The CORE-PD study. Mov Disord 30:278-83 |
