法医学杂志

法医学杂志 ›› 2015, Vol. 31 ›› Issue (6): 432-435.DOI: 10.3969/j.issn.1004-5619.2015.06.005

• 论著 • 上一篇    下一篇

Ion Torrent PGMTM系统检测孕妇血浆中胎儿游离DNA

刘亚楠1，赵雪莹2，平  原1，徐庆文1，黄江平1，邹凯南1，周怀谷1   

  1. 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
  • 发布日期:2015-12-25 出版日期:2015-12-28
  • 通讯作者: 周怀谷，男，博士，主任法医师，主要从事法医DNA分析技术的应用和研究；E-mail：hgzhou803@hotmail.com
  • 作者简介:刘亚楠（1981—），男，硕士，主检法医师，主要从事法医DNA分析技术的应用和研究；E-mail：dyndai@sina.cn
  • 基金资助:

    公安部科技强警基础工作专项资助项目（2013GABJC 005）

Application of Ion Torrent PGMTM System in Detection of Fetal DNA in Maternal Plasma

LIU YA-NAN1, ZHAO XUE-YING2, PING YUAN1, XU QING-WEN1, HUANG JIANG-PING1, ZOU KAI-NAN1, ZHOU HUAI-GU1   

  1. 1. Shanghai Key Laboratory of Crime Scene Evidence, Key Laboratory of Forensic Evidence and Science Technology, Ministry of Public Security, Institute of Forensic Science, Shanghai Public Security Bureau, Shanghai 200083, China; 2. Shanghai Research Institute of Criminal Science and Technology, Shanghai 200083, China
  • Online:2015-12-25 Published:2015-12-28

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。

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 PGMTM系统

Abstract: Objective To explore the feasibility of detecting of Y-STR of fetal DNA in maternal plasma using Ion Torrent PGMTM 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 PGMTM 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 PGMTM System, the prenatal Y-STR detection method may provide a high-sensitive and high-throughput choice for prenatal STR detection in forensic testing.

Key words: forensic genetics, Y chromosome, pregnant women, fetus, short tandem repeat sequences, Ion Torrent PGMTM System

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