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: 6282657
• 负责人: THOMAS O CARPENTER
• 金额: $ 0.62万
• 依托单位: YALE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-12-01 至 1998-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6282657
• 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

Hypophosphatemia 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. (This protocol is an ongoing means of identifying mutations in families with hypophosphatemia rickets and is open ended.)

低磷酸盐血症佝偻病（HYP）是最常见的遗传形式， 佝偻病在美国和最常见的遗传形式， 低磷血症 鉴定和表征特定遗传 最近发现的X连锁（HYP）基因PEX的缺陷将被 本研究的第一个目标。 第二个目标是识别其他基因 可能导致没有突变的患者出现HYP表型 在PEX。 (This协议是一种持续的手段， 家庭与低磷酸盐血症佝偻病，是开放式的。