CHARACTERIZATION OF ENZYME DEFECTS IN HUMAN PORPHYRIAS

人类卟啉症酶缺陷的表征

• 批准号: 7952131
• 负责人: KARL ELMO ANDERSON
• 金额: $ 1.02万
• 依托单位: UNIVERSITY OF TEXAS MED BR GALVESTON
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-04-01 至 2009-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7952131
• 关键词: Aminolevulinic Acid; Clinical Research; Computer Retrieval of Information on Scientific Projects Database; DNA analysis; Defect; Enzymes; Erythrocytes; Family; Feces; Funding; Genes; Grant; Heme; Human; Hydroxymethylbilane Synthase; Institution; Measurement; Methods; Mutation; Patients; Plasma; Porphobilinogen; Porphyrias; Porphyrins; Protocols documentation; Research; Research Personnel; Resources; Source; United States National Institutes of Health; Urine; enzyme pathway

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 purpose is to characterize enzyme defects in patients with known or suspected porphyria and their families. Methods include measurement of porphobilinogen deaminase and porphyrins in erythrocytes, porphyrins and porphyrin precursors (delta-aminolevulinic acid and porphobilinogen) in plasma and urine, and porphyrins in feces. Selected patients are entered in other porphyria research protocols at this and other institutions, including analysis of DNA to identify specific mutations in genes for heme biosynthetic pathway enzymes.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 目的是表征患有已知或疑似卟啉症患者及其家人的酶缺陷。方法包括在血浆和尿液中测量红细胞，卟啉和卟啉前体（Delta-氨基烯烯酸和卟啉原）中的卟啉原脱氨酸酶和卟啉的测量，以及粪便中的卟啉。 选定的患者在该机构和其他机构的其他卟啉研究方案中输入，包括对DNA的分析，以鉴定血红素生物合成途径酶的基因特异性突变。