Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis / 中华医学遗传学杂志
Yong-an ZHOU; Wei-hua GAO; Jian-ping YANG; Quan-bin ZHANG; Gai-xiu ZHANG; Jian-ping LIU; Yun-xia MA; Xiao-gang ZHANG; Liang YU.
Chinese Journal of Medical Genetics
; (6): 683-685, 2012.
Artículo
en Zh
| WPRIM | ID: wpr-232232
<p><b>OBJECTIVE</b>To establish a simple, rapid, inexpensive and sensitive method for detecting hot region for mutations in exon 7 of PAH gene.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>The results detected by HRM are in good agreement with the results obtained by direct sequencing.</p><p><b>CONCLUSION</b>HRM analysis is a simple, rapid, inexpensive and sensitive method for detecting hot mutational region in exon 7 of PAH gene.</p>
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