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.
Article
in Chinese
| 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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Polymerase Chain Reaction
/
Sequence Analysis, DNA
/
Diagnosis
/
Fathers
/
Maternal Serum Screening Tests
/
Genetic Diseases, Inborn
/
Methods
/
Mutation
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2018
Type:
Article
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