Application of droplet digital PCR for non-invasive prenatal diagnosis of single gene disease in two families / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 224-227, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-687973
ABSTRACT
<p><b>OBJECTIVE</b>To assess the value of droplet digital PCR (ddPCR) for non-invasive prenatal diagnosis of single gene disease in two families.</p><p><b>METHODS</b>Paternal mutation in cell-free DNA derived from the maternal blood and amniotic fluid DNA was detected by ddPCR. Suspected mutation in the amniotic fluid DNA was verified with Sanger sequencing.</p><p><b>RESULTS</b>The result of ddPCR and Sanger sequencing indicated that the fetuses have carried pathogenic mutations from the paternal side in both families.</p><p><b>CONCLUSION</b>Droplet digital PCR can accurately detect paternal mutation carried by the fetus, and it is sensitive and reliable for analyzing trace samples. This method may be applied for the diagnosis of single gene diseases caused by paternal mutation using peripheral blood sample derived from the mother.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Reação em Cadeia da Polimerase
/
Análise de Sequência de DNA
/
Diagnóstico
/
Pai
/
Testes para Triagem do Soro Materno
/
Doenças Genéticas Inatas
/
Métodos
/
Mutação
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2018
Tipo de documento:
Artigo
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