LYSOSOMAL ENZYMES

溶酶体酶

• 批准号: 3316125
• 负责人: JOHN S O'BRIEN
• 金额: $ 14.74万
• 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/3316125
• 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.

本项目旨在测定核酸缺陷