Application of droplet digital PCR technology for genetic testing and prenatal diagnosis of spinal muscular atrophy.
- VernacularTitle:微滴式数字PCR在脊肌萎缩症基因检测和产前诊断中的应用
- Author:
Yang ZOU
1
;
Peiwen XU
;
Jie LI
;
Sexin HUANG
;
Ming GAO
;
Ranran KANG
;
Xuan GAO
;
Yuan GAO
Author Information
- Publication Type:Journal Article
- MeSH: Adult; DNA Copy Number Variations; Family Health; Female; Gene Dosage; Genetic Predisposition to Disease; genetics; Genetic Testing; methods; Humans; Male; Multiplex Polymerase Chain Reaction; methods; Muscular Atrophy, Spinal; diagnosis; embryology; genetics; Pedigree; Pregnancy; Prenatal Diagnosis; methods; Reproducibility of Results; Sensitivity and Specificity; Sequence Deletion; Survival of Motor Neuron 1 Protein; genetics
- From: Chinese Journal of Medical Genetics 2016;33(5):594-597
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSA 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.
RESULTSAmong 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.
CONCLUSIONAs a rapid, precise and economically efficient method, ddPCR will provide a new choice for genetic testing of SMA.
