Prenatal diagnosis of Werdnig-Hoffmann disease in China / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 673-675, 2003.
Artigo
em Inglês
| WPRIM
| ID: wpr-324437
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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Atrofias Musculares Espinais da Infância
/
China
/
Deleção de Genes
/
Diagnóstico
/
Doenças Fetais
/
Aconselhamento Genético
/
Genética
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Gravidez
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Chinese Medical Journal
Ano de publicação:
2003
Tipo de documento:
Artigo
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