RENAL MAGNESIUM WASTING--PHENOTYPIC & GENOTYPIC CHARACTERIZATION OF KINDRED

肾镁消耗——表型

• 批准号: 6303656
• 负责人: ROBERT K RUDE
• 金额: $ 3.56万
• 依托单位: UNIVERSITY OF SOUTHERN CALIFORNIA
• 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 2000-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6303656
• 关键词: clinical research; family genetics; genotype; human subject; ion transport; kidney function; magnesium deficiency; magnesium ion; phenotype

The purpose of this project is to characterize the phenotype and genotype of a kindred wiht renal Mg Wasting. We will perform systematic genome scans in order to positionally clone the gene responsible for this disorder. The phenotype of the affected members will also be assessed. These data will provide important information about Mg transport as well as providing a tool by which to study regulation of Mg transport by hormones, growth factors, and pharmaceutical agent The phenotypic finding will allow us to identify complications of depleted Mg.

本研究的目的是对一个肾性镁耗家系的表型和基因型进行分析。我们将进行系统的基因组扫描，以便定位克隆这种疾病的基因。还将评估受影响成员的表型。这些数据将提供有关镁转运的重要信息，并提供一种工具，通过它来研究调节镁转运的激素，生长因子和药物制剂的表型的发现将使我们能够确定耗尽镁的并发症。