Core--Cell Culture, DNA and Microarray

描述(由申请人提供)： 1.提供的服务 建立先天性心脏病患者的淋巴母细胞系。 B.从已建立的细胞系、外周血、血斑、组织或面颊拭子中分离DNA。 C.对高危患者进行FISH筛查22q11.2缺失。 D.通过鱼类对新发现的人类cDNA进行区域性定位。 E.为基于微阵列的实验提供支持。 F.为SCCOR提供基因分型/突变服务。 2.核心单元作为SCCOR的资源的功能 核心D将提供细胞培养、DNA分离、细胞遗传学和DNA分析支持 该SCOR中的项目和核心。拟议的细胞培养和DNA分析核心的名称变化反映了计划目标以及该核心将提供的新的遗传分析服务的范围和重点的变化。Core D的常规活动将包括建立细胞系、对DNA样本进行22q11缺失的FISH分析、制备用于染色体原位杂交的玻片、FISH定位基因以及从患者样本和细胞系中分离高分子量DNA样本。Also Core将根据需要为研究人员提供标记的BAC或粘粒克隆。在DNA分析方面，核心将提供专业服务、技术专长和试剂的集中来源，以支持SCCOR调查人员的DNA分析(微阵列和基因分型)要求。该设施将提供获得设备和技术的途径，而这些设备和技术是调查员在单个实验室拥有的昂贵得令人望而却步的。此外，核心股组长和工作人员将为SCCOR调查人员提供培训和咨询服务，并为年轻和中级调查人员提供关于基因实验室方法和程序的培训。以下各节简要总结了核心功能。

DESCRIPTION (provided by applicant): 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.