Ion Torrent PGM^(TM)系统检测孕妇血浆中胎儿游离DNA  

Application of Ion Torrent PGM^(TM) System in Detection of Fetal DNA in Maternal Plasma

作　　者：刘亚楠[1] 赵雪莹 平原[1] 徐庆文[1] 黄江平[1] 邹凯南[1] 周怀谷[1] 

机构地区：[1]上海市公安局物证鉴定中心法医物证学现场应用技术公安部重点实验室上海市现场物证重点实验室,上海200083 [2]上海市刑事科学技术研究院,上海200083

出　　处：《法医学杂志》2015年第6期432-435,共4页Journal of Forensic Medicine

基　　金：公安部科技强警基础工作专项资助项目(2013GABJC005)

摘　　要：目的探讨Ion Torrent PGMTM系统用于孕妇外周血血浆中胎儿游离DNA的Y-STR检测的可行性。方法采集8例孕晚期(38周)和8例孕中期(12周)的无关孕妇外周血血浆,提取胎儿游离DNA,对DYS390、DYS391、DYS393、DYS438、DYS437、DYS456、DYS635共7个基因座进行复合扩增,在Ion Torrent PGM^(TM)系统进行Y-STR测序分析和毛细管电泳分析,并将两者结果进行比较。结果在分娩男性胎儿的孕晚期及中期孕妇血浆中均检测到Y-STR片段,测序检测得出的基因座比毛细管电泳检测得出的多,且与分娩胎儿的Y-STR基因型相一致。结论 Ion Torrent PGMTM系统用于孕妇外周血血浆胎儿游离DNA的Y-STR检测,具有高灵敏度、高通量的特点,且有较好的法医学应用价值。Objective To explore the feasibility of detecting of Y-STR of fetal DNA in maternal plasma using Ion Torrent PGM^（TM） System.Methods A total of 16 fetal DNA samples from maternal plasmas（8 cases from 38 weeks gestational age and 8 ones from 12 weeks） were prepared and a multiplex assay with 7 STR loci（DYS390,DYS391,DYS393,DYS438,DYS437,DYS456,DYS635） was designed for multiplex-PCR amplification.Using Ion Torrent PGM^（TM） System,the results of Y-STR sequences and capillary electrophoresis were obtained and compared.Results Y-STR specific alleles were detected in the maternal plasma of all the pregnant women having male babies of second and third trimester,which were higher than that detected by capillary electrophoresis.Consistent Y-STR genotypes were observed between fetal DNA from maternal plasma and genomic DNA from the newborn babies.Conclusion Based on Ion Torrent PGM^（TM） System,the prenatal Y-STR detection method may provide a high-sensitive and high-throughput choice for prenatal STR detection in forensic testing.

关 键 词：法医遗传学 Y染色体 孕妇 胎儿 短串联重复序列 ION Torrent PGM^(TM)系统 

分 类 号：DF795.2[医药卫生—法医学]