SCREENING FOR INHERITED THYROID DEFECTS

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 这项研究的主要目的是通过研究人类遗传错误导致甲状腺激素(TH)调节、合成、运输、代谢和作用的缺陷，了解甲状腺生理的分子机制。该计划的核心是为临床研究和实验室支持提供患者材料，以确定导致活体观察的基因缺陷。研究对象是被确认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)。他们可以通过来自美国和国外的转介获得。GCRC实验室进行DNA提取，并在需要时生产转化的噬淋巴细胞系。派S实验室进行甲状腺功能测试。根据这些测试的模式，对候选基因进行识别和测序，以确定是否存在突变。在较大的家庭中，进行连锁分析以确定可能与缺陷有关的基因。最终结果是确定导致先天性甲状腺疾病的新基因缺陷。

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.