先天性无纤维蛋白原血症患者纤维蛋白原基因分析

Analysis of fibrinogen genes in patients with congenital afibrinogenemia.

作者信息

Uzan G, Courtois G, Besmond C, Frain M, Sala-Trepat J, Kahn A, Marguerie G

出版信息

Biochem Biophys Res Commun. 1984 Apr 30;120(2):376-83. doi: 10.1016/0006-291x(84)91264-6.

Abstract

Several cDNA clones coding for A alpha, B beta and gamma chains of fibrinogen have been isolated from a human liver cDNA library. They were selected by differential hybridization with probes raised against fractionated liver mRNA (positive probes) and muscle and albumin mRNA (negative probes), then firmly identified by positive hybridization selection. Three of these clones, encoding A alpha, B beta and gamma fibrinogen chain sequences, were further characterized by restriction mapping and used as probes to characterize fibrinogen mRNAs from adult and fetal liver and fibrinogen genes in normal individuals and two afibrinogenemic patients. The results indicate that there is a single copy of the fibrinogen genes which are present and grossly intact in afibrinogenemic DNA.

摘要

已从人肝脏cDNA文库中分离出几个编码纤维蛋白原Aα、Bβ和γ链的cDNA克隆。它们是通过与针对分级分离的肝脏mRNA制备的探针（阳性探针）以及肌肉和白蛋白mRNA（阴性探针）进行差异杂交来筛选的，然后通过阳性杂交选择进行确切鉴定。其中三个编码Aα、Bβ和γ纤维蛋白原链序列的克隆，通过限制性图谱进一步表征，并用作探针来表征来自成人和胎儿肝脏的纤维蛋白原mRNA以及正常个体和两名无纤维蛋白原血症患者的纤维蛋白原基因。结果表明，纤维蛋白原基因有单拷贝，在无纤维蛋白原血症患者的DNA中存在且基本完整。