1. Services Offered A. Establish lymphoblastoid cell lines from patients with congenital heart defects. B. Isolate DNA from established cell lines, peripheral blood, blood spots, tissues or cheek swabs. C. Perform FISH to screen for 22q11.2 deletions in ?at-risk"""""""" patients. D. Regionally localize newly identified human cDNAs by FISH. E. Provide support for microarray-based experiments. F. Provide genotyping/mutation services for the SCCOR. 2. Functions of the Core Unit as a Resource to the SCCOR Core D will provide the cell culture, DNA isolation, cytogenetic and DNA analysis support for the projects and cores in this SCOR. The change in title to the proposed Cell Culture and DNA Analysis Core reflects the changes in program goals and in the scope and emphasis on new genetic analysis services to be provided by this Core. The routine activities of Core D will include the establishment of cell lines, FISH analysis of DNA specimens for 22q11 deletion, preparation of slides for chromosomal in situ hybridization, gene localization by FISH and isolation of high molecular weight DNA samples from patient samples and cell lines. The also Core will provide investigators access to labeled BAC or cosmid clones for FISH as required. On the DNA analysis side, the Core will provide a centralized source for specialized services, technical expertise and reagents to support the DNA analysis (microarray and genotyping) requirements of the investigators in the SCCOR. The Facility will provide access to equipment and technologies that would be prohibitively expensive for an investigator to possess in an individual laboratory. In addition, the Core Unit Leader and staff will provide training and consultation services to the SCCOR investigators and provide training to young and mid-level investigators in genetic laboratory methods and procedures. The following sections briefly summarize the Core functions.
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