运用孕妇外周血血浆扩增胎儿Amelogenin基因和DYS19位点的研究.docVIP

运用孕妇外周血血浆扩增胎儿Amelogenin基因和DYS19位点的研究 李瓅1，2陈辉1郑红1 1郑州大学基础医学院细胞生物学与医学遗传学教研室 郑州 4500522郑州市中心医院妇产科 郑州 450007 摘要目的探索扩增孕妇外周血血浆实现对男性胎儿的性别诊断的可能性与准确性，为伴性遗传病的产前诊断提供参考。方法采集22例正常孕妇外周血2ml，以一名未婚无妊娠史女性为阴性对照，一名正常男性为阳性对照。以QIAamp DNA Blood Mini Kit提取DNA后作为PCR模板，以巢式PCR技术分别扩增Amelogenin基因和DYS19位点，并将实验结果与娩出后的新生儿实际性别比较。结果Amelogenin基因检测符合率为95.5%，DYS19位点检测符合率90.9%；Amelogenin基因与DYS19位点之间的一致率为95.2%。使用卡方检验比较两指标的检测符合率，未发现显著性差异。结论Amelogenin基因和DYS19位点二者间的检测符合率无显著性差异。联合检测两个指标即Amelogenin基因和DYS19位点，可以提高诊断结果的可信度。 关键词非创伤性产前诊断；血浆DNA；Amelogenin基因；DYS19；巢式PCR 中图分类号R714.52 文献标识码：A A study on using maternal blood plasma to amplify fetal Amelogenin gene and DYS19 locus LI Li1, 2, CHEN Hui1, ZHENG Hong1 (1 Department of Cell Biology And Medical Genetics, Basic Medical College, Zhengzhou University, Zhengzhou 450052; 2 Department of Obstetrics and Gynecology, Zhengzhou Central Hospital, Zhengzhou 450007) Abstract: Objective To investigate the possibility and accuracy of prenatal 作者简介：李瓅女，硕士生，主治医师，从事优生优育技术、妇科肿瘤防治。E-mail：zzsylili@163.com 通作者：女，41岁，博士，教授，E-mail： sex determination with maternal blood plasma for the diagnosis of sex-linked genetic disorders. Methods 2ml peripheral blood was taken from each of the 22 pregnant women, with an unmarried woman with no pregnancy history as the negative control, and a normal man as the positive control. Sodium citrate was used as anticoagulant. 200μl plasma was extracted DNA with QIAamp DNA Blood Mini Kit before used as PCR template. Two rounds of PCR were performed following the nested PCR procedure to amplify Amelogenin gene and DYS19. Whether the results were positive or negative was determined by the products of the second PCR. results The successful fetal gender determination rate of Amelogenin gene was 95.5% and DYS19 90.9%, respectively. The consistent rate between Amelogenin and DYS19 was 95.2%. After the chi-square statistics test, no significant difference was found between the rates of Amelogenin and DYS19. Conclusion No significant di