冠心病并发室性心动过速与KCNQ1-P448R的研究

The Study of Coronary Heart Disease Complicated with Ventricular Tachycardia and Kcnq1-p448r

目的探索冠心病并发室速与KCNQ1的相关性研究。方法收集冠心病并发室性心动过速患者的血样标本,通过候选基因筛查的方式,使用DNA直接测序法对KCNQ1进行筛查。结果 KCNQ1基因第10号外显子的第1343位点上C碱基突变为G碱基,导致编码的第448位氨基酸由脯氨酸突变为精氨酸,即KCNQ1-P448R,100例健康体检对照组中未发现该基因位点改变,提示可能是突变。结论本实验发现1例基因突变的可能,即KCNQ1-P448R,但需进一步的功能学分析研究。

Objective To explore the genetic correlation between ventricular tachycardia and KCNQ1 in coronary heart disease. Methods Blood samples from patients with coronary heart disease complicated with ventricular tachycardia were collected. KCNQ1 genes were screened by direct DNA sequencing. Results The mutation of KCNQ1-P448 R is at the position of 1343 G base substitution C base on the tenth exon of the KCNQ1 gene, which cause the encoded amino acid from proline to arginine. We can not found such base change in the control group. Conclusion Potassium channel mutation gene, KCNQ1-P448 R, was found in this experiment.