Ion Torrent PGMTM系统检测孕妇血浆中胎儿游离DNA

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 PGMTM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 m aternal plasm a using Ion Torrent PGMTM System . Methods A total of 16 fetal DNA sam ples from m aternal plasm as (8 cases from 38 w eeks gestational age and 8 ones from 12 w eeks) w ere prepared and a m ultiplex assay w ith 7 STR loci (DYS390,DYS391,DYS393,DYS438,DYS437,DYS456,DYS635) w as designed for m ul-tiplex-PC R am plification. U sing Ion Torrent PGMTM System , the results of Y-STR sequences and capillary electrophoresis w ere obtained and com pared. Results Y-STR specific alleles w ere detected in the m ater-nal plasm a of all the pregnant w om en having m ale babies of second and third trim ester, w hich w ere higher than that detected by capillary electrophoresis. C onsistent Y-STR genotypes w ere observed betw een fetal DNA from m aternal plasm a and genom ic DNA from the new born babies. Conclusion B ased on Ion Torrent PGMTM System , the prenatal Y-STR detection m ethod m ay provide a high-sensitive and high-throughput choice for prenatal STR detection in forensic testing.