Hayashi H, Ishimaru F, Fujita T, Tsurumi N, Tsuda T, Kimura I
Departments of Blood Transfusion and Internal Medicine, Okayama University Medical School, Japan.
Blood. 1990 Mar 15;75(6):1296-304.
Analyses of the kininogen (KGN) molecule and KGN gene status in five Japanese families with high-molecular-weight (HMW) KGN deficiency were performed by the immunoblotting method with monoclonal antibodies to HMW-KGN, and by the Southern blotting method with the cDNA for human low-molecular-weight prekininogen. No molecular abnormality of KGN was detected in the DNA from four patients with total KGN deficiency or one patient with isolated HMW-KGN deficiency. In the former, the KGN gene appeared to be grossly normal at the level of the whole genome on Southern blotting. In isolated HMW-KGN deficiency, a partial deletion in intron 7 was found by restriction analyses of EcoRI, BamHI, HindIII, Sca I, and Bgl II fragments. This partial deletion is assumed to be related to an abnormality of the alternative RNA splicing events for HMW-prekininogen mRNA.
采用针对高分子量激肽原（HMW-KGN）的单克隆抗体免疫印迹法，以及用人低分子量前激肽原cDNA进行的Southern印迹法，对五个患有高分子量激肽原（HMW-KGN）缺乏症的日本家庭中的激肽原（KGN）分子和KGN基因状态进行了分析。在四名全KGN缺乏症患者或一名孤立性HMW-KGN缺乏症患者的DNA中未检测到KGN的分子异常。在前者中，Southern印迹显示KGN基因在整个基因组水平上大致正常。在孤立性HMW-KGN缺乏症中，通过对EcoRI、BamHI、HindIII、Sca I和Bgl II片段的限制性分析，发现内含子7存在部分缺失。这种部分缺失被认为与HMW-前激肽原mRNA的可变RNA剪接事件异常有关。
