日本人红细胞NADH黄递酶变体

Red cell NADH diaphorase variants in Japanese.

作者信息

Shimizu K, Keino H, Mizutani A, Itoh T, Nishigaki I

出版信息

Hum Hered. 1985;35(4):212-7. doi: 10.1159/000153547.

Abstract

Human red cell NADH diaphorase isozyme patterns were examined in 5,046 healthy adult Japanese by starch gel electrophoresis. Twenty had Dia 2-1 and 3 had Dia 4-1 phenotypes. The incidence of Dia variants in patients with mental retardation, cerebral palsy, epilepsy and Down's syndrome was also examined and compared with that of healthy people. It was noticed that thin-layer isoelectric focusing on polyacrylamide gel was very useful for discriminating variant bands from 'aging bands'.

摘要

通过淀粉凝胶电泳对5046名健康成年日本人的人红细胞NADH黄递酶同工酶模式进行了检测。20人具有Dia 2-1表型，3人具有Dia 4-1表型。还对智力迟钝、脑瘫、癫痫和唐氏综合征患者中Dia变异体的发生率进行了检测，并与健康人进行了比较。注意到聚丙烯酰胺凝胶薄层等电聚焦对于区分变异条带和“老化条带”非常有用。