高分辨熔解曲线分析在遗传病分子诊断中的应用
Application of high resolution melting analysis in the molecular diagnosis of inherited diseases
摘要高分辨熔解曲线分析( HRM)技术基本原理为:DNA饱和荧光染料加入PCR反应体系,在一定的温度范围内将PCR扩增子进行加热变性,专业仪器检测变性双链DNA荧光信号并绘制熔解曲线,根据不同熔解曲线形状来区分野生型和杂合突变型。 HRM技术因其简单易行、准确快速、低成本,周期时间短、高通量等优点而广泛应用于基因突变扫描。此外,与其他突变筛查方法相比, HRM实现真正的闭管操作, PCR 结束后直接运行高分辨熔解分析,使HRM 技术更加方便易行。HRM技术是应用于突变筛查、基因分型等的遗传学分析新技术。(中华检验医学杂志,2017,40:146-148)
更多相关知识
abstractsThe basic principle of high resolution melting ( HRM ) is that DNA -saturated fluorescent dye is added into the PCR reaction system;the PCR amplicon is denatured by heating in a certain temperature range;specialized instrumentsdetect degeneration double-stranded DNA fluorescence signal and draw the melting curve and then wild-type and heterozygous mutants are differentiatedaccording to different melting curve shape .HRM technology is widely used in gene mutation scanning because of its advantages of simplicity, accuracy, fastness, low cost, short cycle time and high throughput .In addition, compared with other mutation screening methods , HRM analysis is a real closed-tube method , which indicates that high-resolution melting analysis is directly performed after PCR reaction and HRM technology is more convenient . In conclusion , HRM technology is a new technology for mutation screening and genotyping .
More相关知识
- 浏览310
- 被引6
- 下载232

相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文