LINKAGE ANALYSIS OF THE LONG QT SYNDROME

长QT综合征的连锁分析

• 批准号: 6113368
• 负责人: Mark W Russell
• 金额: $ 0.02万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6113368
• 关键词: clinical research; family genetics; gene expression; gene mutation; human genetic material tag; human subject; linkage mapping; long QT syndrome

The aim of this research is to identify long QT syndrome families not linked to one of the previously described loci and to identify mutations in families linked to the LQT1, LQT2 or LQT3 loci. We intend to obtain concurrent electrocardiograms (ECG) and blood samples for leukocyte DNA analysis to examine for linkage between the LQT1, 2, 3 and 4loci on chromosomes 11, 7, 3 and 4 respectively and a long QT interval on the ECG. Identification of families not linked to one of these loci will be important in identifying other genes that can cause this life-threatening disorder. Also, identifying mutations in families linked to one of the previously-described genes will further our understanding of the disease process.

这项研究的目的是确定与先前描述的基因座之一没有相关的长QT综合征家族，并确定与LQT1，LQT2或LQT3基因座相关的家族中的突变。 我们打算获得并发的心电图（ECG）和血液样本进行白细胞DNA分析，以检查染色体11、7、3和4的LQT1、2、2、3和4loci之间的联系，并在ECG上进行长时间的QT间隔。与这些基因座之一相关的家庭的识别对于确定可能导致这种威胁生命的疾病的其他基因很重要。 同样，确定与以前描述的基因之一相关的家庭中的突变将进一步了解我们对疾病过程的理解。