CHARACTERIZATION OF DEFECTIVE GENE IN X LINKED HYPOPHOSPHATEMIC RICKETS

X连锁低磷酸盐性佝偻病缺陷基因的特征

• 批准号: 6122622
• 负责人: THOMAS O CARPENTER
• 金额: $ 2.58万
• 依托单位: YALE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6122622
• 关键词: clinical research; family genetics; gene expression; gene mutation; human genetic material tag; human subject; linkage mapping; phenotype; sex linked trait; vitamin D resistant rickets

Hypophosphatemic rickets (HYP) is the most common inherited form of rickets in the United States and the most common inherited form of hypophosphatemia. Identification and characterization of specific genetic defects in PEX, the recently identified gene for x-linked (HYP), will be the first goal of this study. The second goal is to identify genes other than PEX that may lead to the HYP phenotype in patients with no mutations in PEX. Since this is a study looking at genetic analysis of a rare disease, there is no final number of subjects projected.

低磷酸盐血症性佝偻病（HYP）是美国最常见的佝偻病遗传形式，也是最常见的低磷酸盐血症遗传形式。 本研究的第一个目标是鉴定和表征PEX中的特定遗传缺陷，PEX是最近鉴定的X连锁（HYP）基因。 第二个目标是鉴定除PEX以外的基因，这些基因可能导致没有PEX突变的患者的HYP表型。 由于这是一项针对罕见疾病遗传分析的研究，因此没有最终的受试者人数。