カンノ　ヒトシ   菅野　仁    所属   医学部 医学科（東京女子医科大学病院）    職種   特任教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Molecular analysis of Lesch-Nyhan syndrome found in Japan.
掲載誌名	正式名：The Tohoku journal of experimental medicine 略　 称：Tohoku J Exp Med ISSNコード：0040-8727(Print)0040-8727(Linking)
巻・号・頁	155(1),pp.1-9
著者・共著者	Ogura H, Tani K, Kanno H, Morisaki T, Ito M, Kubonishi S, Miyazaki K, Takeuchi T, Fujii H, Miwa S
発行年月	1988/05
概要	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
文献番号	3413775