SCREENING FOR INHERITED THYROID DEFECTS

筛查遗传性甲状腺缺陷

• 批准号: 6304544
• 负责人: Samuel Refetoff
• 金额: $ 3.28万
• 依托单位: UNIVERSITY OF CHICAGO
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-12-01 至 2001-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6304544
• 关键词: endocrine disorder diagnosis; family genetics; gene expression; gene mutation; genetic screening; hormone biosynthesis; hormone regulation /control mechanism; hormone sensitivity /resistance; iodine; phenotype; protein transport; thyroid hormone binding protein; thyroid hormones; thyrotropin; thyroxine

The protocol uses Core Lab resources only. The broad objective of this research proposal is to gain knowledge about the molecular mechanisms of thyroid physiology through the identification and characterization of human genetic errors causing defects of thyroid hormone regulation, synthesis, transport and action. Central to this project is the availability of patient material for clinical studies. These are: subjects expressing the phenotype of thyrotropin resistance, families with iodide trapping defect, iodide organification defect, defects of thyroxine-binding globulin, transthyretin and albumin, and resistance to thyroid hormone.

本方案仅使用核心实验室资源。 这项研究提案的广泛目标是通过识别和表征导致甲状腺激素调节、合成、运输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。 该项目的核心是为临床研究提供患者材料。 这些措施包括：表达促甲状腺激素抵抗表型的受试者，具有碘捕获缺陷、碘有机化缺陷、甲状腺素结合球蛋白、甲状腺素运载蛋白和白蛋白缺陷以及甲状腺激素抵抗的家族。