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
Chinese Journal of Medical Genetics
;
(6): 683-685, 2012.
Artículo
en Chino
| WPRIM
| ID: wpr-232232
ABSTRACT
<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>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenilalanina Hidroxilasa
/
Fenilcetonurias
/
Análisis Mutacional de ADN
/
Secuencia de Bases
/
Exones
/
Técnicas de Amplificación de Ácido Nucleico
/
Temperatura de Transición
/
Diagnóstico
/
Genética
/
Métodos
Tipo de estudio:
Estudio diagnóstico
Límite:
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Lactante
/
Masculino
/
Recién Nacido
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2012
Tipo del documento:
Artículo
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