CLINICAL GENETICS RESEARCH PROGRAM

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目及 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 增强与各种先天性异常和其他遗传条件相关的表型的知识，并开发表型研究资源：基因型相关性。具体目标是：1）仔细记录与各种先天性和遗传性疾病相关的表型，2）创建和维护表型信息数据库，3）收集、处理和储存与表型信息相关的DNA样品和其他生物材料，用于表型：基因型相关性研究。 表型评价的研究程序包括收集病历、体格检查、人体测量、超声评价、放射学检查、核型分析和其他对个体风险最小的标准临床试验。将从外周血和/或口腔拭子、毛囊或皮肤成纤维细胞中获得DNA样本。储存的生物材料由提取的DNA组成， 仙 转化的淋巴细胞，以及有时，其他材料，如皮肤成纤维细胞。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Enhanced knowledge of the phenotypes associated with a variety of congenital anomalies and other genetic conditions, and the development of a resource for the study of phenotype:genotype correlations. Specific goals are 1) careful documentation of phenotypes associated with various congenital and genetic conditions, 2) creation and maintenance of a database of phenotypic information, and 3) collection, processing and storage of DNA samples and other biological matericals linked to phenotypic information, for utilization in studies of phenotype:genotype correlations. The study procedures for phenotypic evaluation consist of gathering of medical records, physical examination, anthropometric measurements, ultrasound evaluations, radiological examinations, karyotyping, and other standard clinical tests that pose minimal risk to individuals. DNA samples will be obtained from peripheral blood and/or buccal swabs, hair follicles, or skin fibroblasts. Stored biological material consists of extracted DNA, immortal transformed lymphocytes, and, on occasion, other material, such as skin fibroblasts.