SCREENING FOR INHERITED THYROID DEFECTS

这个子项目是众多研究子项目之一

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.