Application of high resolution melting analysis in the molecular diagnosis of inherited diseases

The 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.(Chin J Lab Med, 2017, 40: 146-148) Key words: Genetic diseases, inborn; Polymerase chain reaction; Mutation; Genotyping techniques; High resolution melting