Prenatal diagnosis of Werdnig-Hoffmann disease in China / 中华医学杂志(英文版)
Chinese Medical Journal
; (24): 673-675, 2003.
Article
en En
| WPRIM
| ID: wpr-324437
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To establish a means for prenatal prediction of spinal muscular atrophy (SMA) through survival motor neuron (SMN) gene deletion analysis and genetic counseling in families with a child affected with SMA.</p><p><b>METHODS</b>Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8.</p><p><b>RESULTS</b>The pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated.</p><p><b>CONCLUSION</b>This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.</p>
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Diagnóstico Prenatal
/
Atrofias Musculares Espinales de la Infancia
/
China
/
Eliminación de Gen
/
Diagnóstico
/
Enfermedades Fetales
/
Asesoramiento Genético
/
Genética
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Pregnancy
País/Región como asunto:
Asia
Idioma:
En
Revista:
Chinese Medical Journal
Año:
2003
Tipo del documento:
Article