摘要
目的探索微滴式数字PCR（droplet digital PCR，ddPCR）技术在脊肌萎缩症（spinal muscular atrophy，SMA）的致病基因SMN1第7外显子拷贝数的检测和产前诊断中的应用。方法应用ddPCR技术和常规的多重连接依赖性探针扩增技术同时对56个SMA家系共138例样本（其中产前诊断样本17例）行SMN1基因第7外显子拷贝数的检测，并对二者的结果进行比较。结果ddPCR技术检测结果同多重连接依赖性探针扩增技术检测结果一致率为100％，其中SMN1第7外显子拷贝数为2的样本25例，拷贝数为1的样本84例，拷贝数为0的样本29例。结论ddPCR技术对于SMN1基因拷贝数的检测是准确、快速、经济的，可满足SMA临床基因检测和产前诊断的需求。
Objective 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. Methods 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 ligatiow dependent probe amplification （MLPA）. Results of the two approaches were analyzed with commercial software QuantaSoft （ddPCR） and Coffalyser （MLPA）, respectively. Results 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. Conclusion As a rapid, precise and economically efficient method, ddPCR will provide a new choice for genetic testing of SMA.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2016年第5期594-597,共4页
Chinese Journal of Medical Genetics
基金
山东省人口和计划生育委员会科学技术研究项目（2012-2）
