10例孕妇血浆中胎儿游离DNA-STR位点检测分析  

Research on short tandem repeat of free-fetal DNA in maternal plasma

作　　者：高慧双[1] 苏恩本[1] 陈子庆[2] 居晓斌[2] 丁小建[2] 周惠英[2] 陈奇[2] 周容[2] 夏新辉[2] 

机构地区：[1]南京医科大学第一附属医院检验中心,江苏南京210029 [2]南京医科大学第一附属医院司法鉴定所,江苏南京210029

出　　处：《南京医科大学学报（自然科学版）》2008年第4期522-526,共5页Journal of Nanjing Medical University(Natural Sciences)

基　　金：江苏省卫生厅135重点人才基金(RC2002052)

摘　　要：目的:探索短串连重复序列(STR)多位点检测孕妇血浆中胎儿游离DNA的可行性。方法:改进QIAamp离心柱型DNA提取方法提取10例孕中期孕妇血浆中总游离DNA,进行D3S1358、D13S317、CSF1PO、D12S391、D6S477、VWA6个STR位点扩增,并以孕妇与胎儿羊水细胞基因组DNA为对照,变性聚丙烯酰胺凝胶电泳分析胎儿游离DNA提取效果及检测效率。结果:10例孕中期孕妇血浆样本共检测位点60个,检出有结果位点44个,除去母体与胎儿DNA基因型完全一致的14个位点,剩余的30个位点中,18个位点成功检出胎儿DNA基因型,检出率30%。检出率最高的位点是D13S317和D12S391。结论:STR多位点的扩增可以检测得出胎儿特异性DNA序列,有望应用于无创伤性产前遗传性疾病的诊断和法医学亲子鉴定中。Objective：To study the feasibility of detecting free-fetal DNA in maternal plasma by multiplex short tadem repeat （STR） loci amplification. Methods：Plasma total DNA extracted from 10 medium pregnancy women by improved DNA isolation method were detected to analyze genotype by multiplex STR amplification. Then the extraction efficiency and rate of assay was analyzed using DNA-PAGE （polyacrylamide gel electrophoresis） in comparison with the matemal and fetal genome DNA. Results：Of all the 60 loci detected in 10 medium pregnancy women plasma,44 loci have results. Except the 14 loci which matemal and fetal DNA genetypes were completely same,free-fetal DNA in maternal plasma were detected in 18 of 30 STR loci,the rate of detection was 30%. D13S317 and D12S391 have the maximal detection rate. Conclusion：Multiplex STR loci amplification can detect free-fetal specificity genotype in maternal plasma, which may have expectation for noninvasive prenatal diagnosis of certain hereditary diseases.

关 键 词：胎儿游离DNA STR 产前诊断 

分 类 号：R446.11[医药卫生—诊断学]