CHARACTERISTICS--GENES RESPONSIBLE FOR FAMILIAL HYPOPHOSPHATEMIC RICKETS

特征——导致家族性低磷酸盐性佝偻病的基因

• 批准号: 6120821
• 负责人: INGRID A HOLM
• 金额: $ 3.04万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 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/6120821
• 关键词: gene mutation; genotype; human genetic material tag; inborn metabolism disorder diagnosis; linkage mapping; phenotype; phosphates; phosphorus metabolism; quantitative trait loci; vitamin D resistant rickets

The long-term objectives of this study are to characterize the gene defects leading to familial hypophosphatemic rickets (FHR), to understand how phosphate transport is regulated, and to lay the ground work for better therapy for affected individuals. PEX is the gene responsible for the most common form of FHR, X-linked hypophosphatemic rickets (HYP). In previous studies, no PEX mutation was detectable in about 50% of individuals with FHR, suggesting that some affected individuals may have autosomal dominant hypophosphatemic rickets (ADHR), another form of FHR for which the genetic defect is not known. The hypothesis is that mutations in genes other than PEX may lead to the HYP phenotype, and that these genes play an important role in phosphate transport. Specific Aims: 1) Analyze FHR patients for mutations in PEX 2) Perform a genotype-phenotype analysis of PEX mutations in patients with HYP 3) Identify a subset of patients with FHR and no detectable mutation in PEX, who will be used to search for other loci responsible for ADHR, with special emphasis on chromosomes 9 and 13.

这项研究的长期目标是描述基因的特征， 导致家族性低磷酸盐血症性佝偻病（FHR）的缺陷， 了解磷酸盐转运是如何调节的， 为受影响的个人提供更好的治疗。PEX是一种基因 导致最常见的FHR形式，X连锁低磷酸盐血症， 佝偻病（HYP）。在以前的研究中，没有检测到PEX突变， 大约50%的FHR患者，这表明一些受影响的 个体可能患有常染色体显性低磷血症性佝偻病 （ADHR），另一种形式的FHR，其遗传缺陷未知。 假设是PEX以外的基因突变可能导致 HYP表型，并且这些基因在磷酸化中起重要作用。 运输 具体目的：1）分析FHR患者的PEX突变2）执行 HYP患者PEX突变的基因型-表型分析3） 确定FHR患者的一个子集，并且在以下方面没有检测到突变： PEX将用于寻找其他ADHR基因座， 特别强调9号和13号染色体。