SMN1 gene deletion analysis using mid-trimester amniotic fluid cells by real-time PCR
10.3760/cma.j.issn.1009-9158.2016.06.006
- VernacularTitle:利用实时荧光定量 PCR 分析孕中期羊水细胞 SMN1基因缺失
- Author:
Heyu HU
;
Xingli FU
;
Jing YU
;
Bei ZHANG
;
Zhenhua TANG
;
Huifen CHEN
;
Li ZHANG
;
Bo GONG
- Publication Type:Journal Article
- Keywords:
Muscular atrophy,spinal;
Amniotic fluid;
Survival of motor neuron 1 protein;
Gene deletion;
Real-time polymerase chain reaction;
Multiplex polymerase chain reaction
- From:
Chinese Journal of Laboratory Medicine
2016;39(6):418-422
- CountryChina
- Language:Chinese
-
Abstract:
Objectives To investigate the prenatal diagnosis method of spinal muscular atrophy with amniotic fluid sample.Methods Totally 1 064 amniotic fluid samples from mid-trimester pregnant women were enrolled during January 2015 and January 2016 in 4 hospitals.Genetic analysis was performed for detecting potential contamination of maternal tissue by a genetic technique based on short tandem repeat ( STR) markers.Deletion of SMN1 gene was detected in 1 062 uncontaminated amniotic fluid samples by real-time PCR and multiplex ligation-dependent probe amplification ( MLPA) respectively.Results Two contaminated amniotic fluid samples were detected within 1 064 mid-trimester pregnant women by STR genotyping.The other 1 062 uncontaminated amniotic fluid samples were tested by real-time PCR.There were 37 samples with heterozygous deletion of Exon 7 of SMN1 gene ( 3.67%) , 34 samples with heterozygous deletion of Exon 8 of SMN1 gene (3.2%) and two samples with homozygous deletion of Exon 7 and Exon8 of SMN1 gene ( 0.19%) respectively , while other samples observed with no deletion of Exon 7 and Exon8 in SMN1 gene.Totally 41 samples with heterozygous or homozygous deletion of SMN 1 gene and 55 samples with undetected deletion of SMN 1 gene were confirmed by MLPA and the results showed 100%consistence with that of real-time PCR.Conclusions Both real-time PCR and MLPA are suitable for detecting the deletion of SMN 1 gene with amniotic fluid sample . Real-time PCR exhibits less sample requirement and time compared with MLPA .
