Rapid diagnosis of spinal muscular atrophy using denaturing high-performance liquid chromatography / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 291-293, 2005.
Artigo
em Inglês
| WPRIM
| ID: wpr-321103
ABSTRACT
<p><b>OBJECTIVE</b>To introduce the application of denaturing high-performance liquid chromatography (DHPLC) in the diagnosis of childhood type spinal muscular atrophy (SMA).</p><p><b>METHODS</b>Exon 7 and flanking area of survival motor neuron (SMN) gene were amplified by PCR in 1 standard sample, 25 normal individuals and 25 patients with SMA. The PCR products were then directly loaded onto the DHPLC system after denaturing and annealing. Different DNA segments were separated by changing the concentration of buffer A relative to that of buffer B.</p><p><b>RESULTS</b>Different DNA segments were separable on the DHPLC chromatogram. Three peaks including SMN1/SMN2 heteroduplex peak, SMN2 homoduplex peak and SMN1 homoduplex peak were detected in 23 out of 25 normal individuals. Only SMN1 homoduplex peak was detected in 2 normal individuals and the standard sample, indicating the deletion of SMN2 On the contrary, only the SMN2 homoduplex peak was detected in 22 out of 25 patients with SMA, indicating deletion of SMN1. The three peaks as those of normal individuals were detected in the other 3 patients, indicating no SMN1 or SMN2 deletion.</p><p><b>CONCLUSION</b>As a new technology for diagnosing SMA, DHPLC is sensitive, accurate, rapid and convenient.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Atrofia Muscular Espinal
/
Reação em Cadeia da Polimerase
/
Éxons
/
Reprodutibilidade dos Testes
/
Cromatografia Líquida de Alta Pressão
/
Sensibilidade e Especificidade
/
Diagnóstico
/
Proteínas do Complexo SMN
/
Proteína 1 de Sobrevivência do Neurônio Motor
/
Proteína 2 de Sobrevivência do Neurônio Motor
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Inglês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2005
Tipo de documento:
Artigo
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