LYSOSOMAL ENZYMES

溶酶体酶

• 批准号: 3316130
• 负责人: JOHN S O'BRIEN
• 金额: $ 14.44万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN DIEGO
• 依托单位国家: 美国
• 财政年份: 1984
• 资助国家: 美国
• 起止时间: 1984-12-01 至 1991-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3316130
• 关键词: arylsulfatases; biological polymorphism; chromosome translocation; complementary DNA; enzyme mechanism; fucosidosis; genetic mapping; human population genetics; inborn lysosomal enzyme disorder; inborn metabolism disorder diagnosis; laboratory mouse; leukodystrophy; linkage mapping; lysozyme; mannosidase; metachromatic leukodystrophy; molecular cloning; molecular pathology; nucleic acid probes; nucleic acid sequence; plasminogen; protein sequence; ribosomal RNA

This project is designed to determine the nucleic acid defects in human and canine alpha-L-fucosidosis, determine whether the electrophoretic enzyme polymorphism of human alpha-L- fucosidosis is coded by the structural FUC Al locus, and determine whether the low enzyme activity polymorphism of human alpha-L-fucosidase is coded by FUC Al. A second goal is to complete the isolation of a cDNA coding for arylsulfatase A, perform DNA sequence analysis for this cDNA, map the precise chromosomal location of ARSA and determine nucleic acid defects in human metachromatic leucodystrophy.

该项目旨在确定核酸缺陷 人和犬 α-L-岩藻糖苷沉积症，确定是否 人α-L-电泳酶多态性 岩藻糖苷沉积症由结构 FUC Al 基因座编码，并且 判断是否存在低酶活性多态性 人α-L-岩藻糖苷酶由FUC Al编码。 第二个目标是 完成编码芳基硫酸酯酶A的cDNA的分离， 对该 cDNA 进行 DNA 序列分析，绘制精确的图谱 ARSA的染色体定位并确定核酸 人类异染性脑白质营养不良的缺陷。