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.
Article
in Chinese
| 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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Prenatal Diagnosis
/
Muscular Atrophy, Spinal
/
Embryology
/
Genetic Testing
/
Family Health
/
Reproducibility of Results
/
Sensitivity and Specificity
/
Sequence Deletion
/
Gene Dosage
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article
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