Application of droplet digital PCR technology for genetic testing and prenatal diagnosis of spinal muscular atrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 594-597, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-345402
ABSTRACT
<p><b>OBJECTIVE</b>To explore the clinical application of droplet digital PCR (ddPCR) for genetic testing and prenatal diagnosis of spinal muscular atrophy (SMA) with deletion of SMN1 gene exon 7.</p><p><b>METHODS</b>A total of 138 clinical samples, including 121 peripheral blood, 13 amniotic fluid, 2 umbilical cord blood and 2 chorionic villi from 56 SMA families, were tested by both ddPCR and multiplex ligation-dependent probe amplification (MLPA). Results of the two approaches were analyzed with commercial software QuantaSoft (ddPCR) and Coffalyser (MLPA), respectively.</p><p><b>RESULTS</b>Among the 138 cases, 25 had two copies, 84 had one copy, and 29 had null copy of exon 7 of the SMN1 gene. The results of ddPCR and MLPA were completely consistent.</p><p><b>CONCLUSION</b>As a rapid, precise and economically efficient method, ddPCR will provide a new choice for genetic testing of SMA.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Diagnóstico Pré-Natal
/
Atrofia Muscular Espinal
/
Embriologia
/
Testes Genéticos
/
Saúde da Família
/
Reprodutibilidade dos Testes
/
Sensibilidade e Especificidade
/
Deleção de Sequência
/
Dosagem de Genes
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
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