%0 Journal Article
%T Association between Mutation of Phospholamban Gene and Dilated Cardiomyopathy<br>中国人扩张型心肌病与受磷蛋白基因关系的研究 Association between Mutation of Phospholamban Gene and Dilated Cardiomyopathy
%A ZHAO Chun-Xia
%A CUI Ying-Hua
%A ZHU Zhi-Hui
%A WANG Dao-Wen
%A <br>赵春霞
%A 崔英华
%A 朱智慧
%A 汪道文ZHAO Chun-Xia
%A CUI Ying-Hua
%A ZHUZhi-Hui
%A WANG Dao-Wen
%J 遗传
%D 2004
%I 
%X Phospholamban (PLB) is a prominent regulator of myocardial contractility and a reversible inhibitor of the cardiac sarcoplasmic reticulum Ca~(2 ) ATPase activity. In normal cardiac muscles, phospholamban can be phosphorylated at distinct sites by various protein kinases and release its inhibition to sarcoplasmic reticulum Ca~(2 ) ATPase. The studies of pedigrees have shown dilated cardiomyopathy (DCM) is related with mutation of PLB gene. The aim of present study is to investigate the relationship between mutation of PLB gene and DCM. Sixty patients with idiotic DCM were enrolled in present study. The clinical data were collected, including clinical symptoms, ECG and echocardiography. Peripheral blood samples of all these subjects were collected to extract genome DNA. The fragments of PLB gene were amplified by PCR and PCR fragment sequencing was performed to study weather mutation of phospholamban gene exists.Phospholamban gene did not show any mutation in these patients. Most Chinese DCM patients may not be related with mutation of PLB gene.
%K dilated cardiomyopathy
%K phospholamban gene
%K mutation<br>扩张型心肌病
%K 受磷蛋白基因
%K 突变
%U http://www.alljournals.cn/get_abstract_url.aspx?pcid=90BA3D13E7F3BC869AC96FB3DA594E3FE34FBF7B8BC0E591&jid=3E23F50E071DF18E21B2F5AEE4F1FA5E&aid=4AAD84F93D2F5991&yid=D0E58B75BFD8E51C&vid=96C778EE049EE47D&iid=94C357A881DFC066&sid=4158386E7B9422C8&eid=3B2BF7AC5674E8E2&journal_id=0253-9772&journal_name=遗传&referenced_num=0&reference_num=14