[Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis]

To establish a simple, rapid, inexpensive and sensitive method for detecting hot region for mutations in exon 7 of PAH gene.High-resolution melting (HRM) technology was used to detect a c.728GA mutation in exon 7 in 88 patients with classical type phenylketonuria. Suspected mutations were validated by direct DNA sequencing.The results detected by HRM are in good agreement with the results obtained by direct sequencing.HRM analysis is a simple, rapid, inexpensive and sensitive method for detecting hot mutational region in exon 7 of PAH gene.