菅野　仁    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Professor (Fixed Term)
Article types	Original article
Language	English
Peer review	Peer reviewed
Title	Molecular analysis of Lesch-Nyhan syndrome found in Japan.
Journal	Formal name：The Tohoku journal of experimental medicine Abbreviation：Tohoku J Exp Med ISSN code：0040-8727(Print)0040-8727(Linking)
Volume, Issue, Page	155(1),pp.1-9
Author and coauthor	Ogura H, Tani K, Kanno H, Morisaki T, Ito M, Kubonishi S, Miyazaki K, Takeuchi T, Fujii H, Miwa S
Publication date	1988/05
Summary	Molecular analysis of four unrelated patients with Lesch-Nyhan (L-N) syndrome was performed. All four cases had typical clinical features of L-N syndrome, and the activities of hypoxanthine-guanine phosphoribosyltransferase (HPRT) were absent. No structural gene abnormalities were found by Southern blot analysis in all cases, and a decrease of HPRT mRNA was not detected by dot blot analysis in two of the four cases. However, HPRT enzyme proteins were detected by Western blot analysis in all cases. Our results showed that the production of immunologically reactive but enzymatically inactive mutant HPRT protein was pathogenic for all four patients.
DOI	10.1620/tjem.250.1
Document No.	3413775