Exhaustive screening of novel genes responsible for refractory heart diseases

彻底筛选导致难治性心脏病的新基因

• 批准号: 23659410
• 负责人: MURAKOSHI Nobuyuki
• 金额: $ 2.33万
• 依托单位: University of Tsukuba
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Challenging Exploratory Research
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 2013
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23659410/
• 关键词: 分子心臓病態学; 心臓病; 遺伝; 遺伝性不整脈; 原因遺伝子; マウス; 心疾患; 遺伝子

We performed a large-scale forward genetic screening for the random mutated mice library based on the functional, morphological, and electrophysiological parameters to find new model with genetic cardiac disorders. First screening of approximately 6,800 mice have been completed, 41 of them were determined as having positive phenotype, and second generation were produced by crossing between 29 mice of phenotype-positive mice. Among them, 2 strains (1 strain with left ventricular hypertrophy and 1 strain with ventricular arrhythmia) had inheritable characters. We identified a genetic locus responsible for arrhythmic phenotype (polymorphic ventricular tachycardia) using SNP mapping. We will identify the responsible gene using next-generation sequencing, analyze detailed phenotypes, and report a novel model of hereditary arrhythmia near future.

我们根据功能，形态和电生理参数进行了随机突变小鼠文库的大规模前向基因筛查，以找到患有遗传性心脏疾病的新模型。首次筛查约6,800只小鼠已经完成，其中41只被确定为具有正表型，第二代是通过在29只小鼠之间穿过表型阳性小鼠而产生的。其中，有2种菌株（左心室肥大的1个菌株和1个带有心室心律失常的菌株）具有可遗传的特征。我们使用SNP映射确定了负责心律不齐表型（多态性心室心动过速）的遗传基因座。我们将使用下一代测序，分析详细的表型确定负责任的基因，并报告遗传性心律失常的新型模型。