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心脏特异性同源盒基因变异与法洛四联症
引用本文:李霞,王琦光,朱鲜阳.心脏特异性同源盒基因变异与法洛四联症[J].心血管病学进展,2009,30(3):479-482.
作者姓名:李霞  王琦光  朱鲜阳
作者单位:1. 辽宁医学院沈阳军区总医院研究生,辽宁,沈阳,110016
2. 沈阳军区总医院先心病内科,辽宁,沈阳,110016
摘    要:心脏特异性同源盒基因,是所有脊椎动物心脏发生中最早表达的转录因子。近年来,大量实验研究表明心脏特异性同源盒基因在心脏发生发育、传导系统及成熟心脏正常功能维持等方面扮演重要角色,其变异影响心脏发育,导致各种先天性心脏病,包括法洛四联症。现对心脏特异性同源盒基因与法洛四联症之间的相关研究作以简单介绍。

关 键 词:心脏特异性同源盒基因  法洛四联症

Mutations of Nkx2.5 Gene and Tetralogy of Fallot
LI Xia,WANG Qi-guang,ZHU Xian-yang.Mutations of Nkx2.5 Gene and Tetralogy of Fallot[J].Advances in Cardiovascular Diseases,2009,30(3):479-482.
Authors:LI Xia  WANG Qi-guang  ZHU Xian-yang
Institution:LI Xia, WANG Qi-guang , ZHU Xian-yang ( 1. Graduate of Liaoning Medical College, General Hospital of Shenyang Military Region, Shenyang 110016, China ; 2. Department of Congenital Heart Disease, General Hospital of Shenyang Military Region, Shenyang 110016, China)
Abstract:Cardiac specific homeobox gene, is expressed early during mammalian embryogenesis. A lot of experimental evidence has revealed that the Nkx2.5 gene plays a crucial role in cardiogenesis, and later in the conduction system and the adaptive process in adult hearts. Mutations of the gene cause various congenital heart diseases including tetralogy of Fallot. The present review gives a simple presentation of the relationship between Nkx2.5 gene and tetralogy of Fallot.
Keywords:cardiac specific homeoboxgene  tetralogy of Fallot
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