HUMAN MOLECULAR GENETICS OF DILATED CARDIOMYOPATHY

这项研究的长期目标是明确心血管疾病的遗传基础 年轻患者中的疾病。这项提案的目标是确定 引起扩张型心肌病的基因(S) 常染色体占主导地位的时尚。心肌病被定义为“心肌病” 原因不明的疾病。扩张型心肌病是最常见的 心肌病的一种形式，其特征是脑室扩张 收缩功能减退。根据定义，扩张型心肌病是 特发性的，但最近的临床研究表明， 在20%-30%的情况下。寻找导致扩张症的基因突变 心肌病，L将用这些技术评估三个家系 分析候选基因方程和位置克隆。身份识别 扩张型心肌病的遗传原因将使临床前 对高危个体的诊断，将提供病理生理学基础 这可能导致改进的治疗方式或预防，并且可以 提高对其他心脏疾病中心力衰竭的认识。

The long-term of this research is to define the genetic basis of CV diseases in young patients. The goal of this proposal is to identify the gene(s) which cause dilated cardiomyopathy that is transmitted in an autosomal dominant fashion. Cardiomyopathies are defined as "heart muscle diseases of unknown cause." Dilated cardiomyopathy is the most prevalent form of cardiomyopathy, and it is characterized by ventricular dilation with reduced systolic function. By definition, dilated cardiomyopathy is idiopathic, but recent clinical studies have demonstrated a strong genetic component in 20-30% of cases. To find the gene mutation causing dilated cardiomyopathy, l will evaluate three pedigrees using the techniques analysis candidate gene equation and positional cloning. Identification of a genetic cause of dilated cardiomyopathy will enable preclinical diagnosis in individuals at risk, will provide a pathophysiologic basis which may lead to improved therapeutic modalities or prevention, and may improve understanding of heart failure in other cardiac diseases.