Iwaki A, Iwaki T, Goldman J E, Ogomori K, Tateishi J, Sakaki Y
Research Laboratory for Genetic Information, Kyushu University, Fukuoka, Japan.
Neurosci Lett. 1992 Jun 8;140(1):89-92. doi: 10.1016/0304-3940(92)90689-5.
alpha B-Crystallin is a major protein component of Rosenthal fibers, which massively accumulate in the brains of patients suffering from Alexander's disease. To examine whether or not accumulation of alpha B-crystallin is due to any abnormality of the gene structures, we determined the sequence of the alpha B-crystallin gene in two cases of pathologically confirmed Alexander's disease. Direct sequencing of the promoter and coding regions of the alpha B-crystallin gene in patients revealed them to have a normal sequence. Northern blotting showed a single alpha B-crystallin mRNA species expressed in the Alexander's disease brain.
αB-晶状体蛋白是罗森塔尔纤维的主要蛋白质成分，罗森塔尔纤维大量积聚于患有亚历山大病患者的大脑中。为了检测αB-晶状体蛋白的积聚是否归因于基因结构的任何异常，我们测定了两例经病理确诊的亚历山大病患者的αB-晶状体蛋白基因序列。对患者αB-晶状体蛋白基因的启动子和编码区进行直接测序，结果显示其序列正常。Northern印迹法显示在亚历山大病患者大脑中表达的αB-晶状体蛋白mRNA只有一种。
