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

OBJECTIVE

To establish a simple, rapid, inexpensive and sensitive method for detecting hot region for mutations in exon 7 of PAH gene.

METHODS

High-resolution melting (HRM) technology was used to detect a c.728G>A mutation in exon 7 in 88 patients with classical type phenylketonuria. Suspected mutations were validated by direct DNA sequencing.

RESULTS

The results detected by HRM are in good agreement with the results obtained by direct sequencing.

CONCLUSION

HRM analysis is a simple, rapid, inexpensive and sensitive method for detecting hot mutational region in exon 7 of PAH gene.