SCREENING FOR INHERITED THYROID DEFECTS

筛查遗传性甲状腺缺陷

• 批准号: 7604798
• 负责人: Samuel Refetoff
• 金额: $ 0.08万
• 依托单位: UNIVERSITY OF CHICAGO
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-03-01 至 2007-09-16
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7604798
• 关键词: Candidate Disease Gene; Cell Line; Child; Clinical Research; Computer Retrieval of Information on Scientific Projects Database; DNA; Defect; Family; Family member; Funding; Genes; Grant; Human Genetics; Inherited; Institution; Knowledge; Laboratories; Metabolism; Molecular; Mutation; Outcome; Parents; Patients; Pattern; Physiology; Research; Research Personnel; Resources; Screening procedure; Siblings; Source; Study Subject; Testing; Thyroid Diseases; Thyroid Function Tests; Thyroid Gland; Thyroid Hormones; United States; United States National Institutes of Health; base; genetic linkage analysis; hormone regulation; in vivo; programs

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. The broad objectives of this study is to gain knowledge about the molecular mechanisms of thyroid physiology through the study of human genetic errors causing defects in thyroid hormone (TH) regulation, synthesis, transport, metabolism and action. Central to this program is the availability of patient material for clinical studies and laboratory support to identify the gene defects responsible for the in vivo observations. The study subjects are children identified to have congenital thyroid diseases and their immediate family members (parents and siblings). They are accessible through referrals from the United States and abroad. The GCRC laboratory performs DNA extractions and , when required, produces transformed lymphophast cell lines. The PI s laboratory performs thyroid function tests. Based on the pattern of these tests, candidate genes are identified and sequenced for the presence of mutations. In larger families, linkage analysis is carried out to identify genes potentially involved in the defects. The final outcome is identification of new gene defects causing congenital thyroid diseases.

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。子项目和 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。 本研究的主要目的是通过研究导致甲状腺激素（TH）调节、合成、运输、代谢和作用缺陷的人类遗传错误，获得有关甲状腺生理学分子机制的知识。 该计划的核心是临床研究和实验室支持的患者材料的可用性，以确定负责体内观察的基因缺陷。 研究对象是被确定患有先天性甲状腺疾病的儿童及其直系亲属（父母和兄弟姐妹）。 他们可以通过美国和国外的转介获得。 GCRC实验室进行DNA提取，并在需要时产生转化的淋巴细胞系。 PI实验室进行甲状腺功能检查。 基于这些测试的模式，识别候选基因并对突变的存在进行测序。 在较大的家族中，进行连锁分析以确定可能涉及缺陷的基因。 最终的结果是鉴定出导致先天性甲状腺疾病的新基因缺陷。