文章摘要
杨 岚,孙海燕,肖建平,王峻峰,唐 叶,陈道桢.应用Multiple-SNaPshot技术无创性产前检测唐氏综合征[J].南京医科大学学报,2014,(5):664~668
应用Multiple-SNaPshot技术无创性产前检测唐氏综合征
Application of SNaPshot assay in the noninvasive prenatal detection of trisomy 21
投稿时间:2013-07-17  
DOI:10.7655/NYDXBNS20140526
中文关键词: Multiple-SNaPshot  PLAC4  单核苷酸多态性  无创性产前诊断  产前筛查  唐氏综合征
英文关键词: multiple-SNaPshot  PLAC4  RNA-SNP  non-invasive prenatal diagnosis  prenatal screening  downs syndrome
基金项目:无锡市科技局指令性资助项目(CSEYIN1109);江苏省“科教兴卫工程”专项经费资助项目(RC201103);江苏省妇幼保健重点资助项目(F201315)
作者单位
杨 岚 南京医科大学附属无锡妇幼保健院产前诊断中心,江苏 无锡 214002 
孙海燕 上海复旦大学生命科学院基因研究室,上海 200433 
肖建平 南京医科大学附属无锡妇幼保健院产前诊断中心,江苏 无锡 214002 
王峻峰 南京医科大学附属无锡妇幼保健院产前诊断中心,江苏 无锡 214002 
唐 叶 南京医科大学附属无锡妇幼保健院产前诊断中心,江苏 无锡 214002 
陈道桢 南京医科大学附属无锡妇幼保健院产前诊断中心,江苏 无锡 214002 
摘要点击次数: 737
全文下载次数: 410
中文摘要:
      目的:探讨1种相对便捷?准确?经济的适用于杂合型SNP位点的无创性产前检测胎儿唐氏综合征的方法?方法:选择50例孕整倍体胎儿(孕15~21周)?13例孕21三体胎儿(孕19~26周)的母血浆样本,应用Multiple-SNaPshot法检测胎盘源性PLAC4基因上5个SNP等位基因的基因比率及其杂合性,从而对杂合型SNP位点的胎儿无创性产前检测唐氏综合征;同时对我国苏南地区200例人群的5个SNP位点进行基因型别研究?结果:从63例单胎孕妇外周血中成功提取到PLAC4 mRNA,检测出17例PLAC4上为杂合型SNP的样本,通过分析SNP等位基因比率检测出14例正常整倍体胎儿及3例21三体胎儿?苏南地区人群PLAC4上Rs8130833和Rs4818219位点的杂合度分别为0.278和0.343?结论:对PLAC4基因上为杂合型SNP位点的胎儿,用Multiple-SNaPshot法检测其等位基因比率可用于无创性产前筛查唐氏综合征?苏南地区人群PLAC4基因上SNP杂合度较高的位点有Rs8130833和Rs4818219?
英文摘要:
      Objective:Non-invasive prenatal diagnosis of chromosome aneuploidies has been achieved by measuring the ratio of two alleles of a single nucleotide polymorphism (SNP) in circulating placental mRNA (the RNA–SNP allelic ratio approach) in maternal plasma. This research is conducted to develop a rapid,accurate and cost-effective assay for the non-invasive prenatal detection of fetal trisomy 21. Methods:Maternal plasma samples were collected from 50 eupliod pregnancies(gestational age range:15 to 21weeks)and 13 trisomy 21 pregnant cases(gestational age range:19 to 26 weeks). With the application of Multiple-SNaPshot assay in measuring five SNP allelic ratios and heterozygosis for the chromosome 21 transcribed placenta-specific-4(PLAC4) mRNA in maternal plasma,we successfully achieved noninvasive prenatal detection of trisomy 21 in cases with the heterozygous SNPs on PLAC4 mRNA. Also the genotypes of the SNPs located in the transcribed regions of the gene PLAC4 were detected in population samples collected from 200 voluteers in Southeast China by SNaPshot assay. Results:PLAC4 mRNA was detected in peripheral blood of all pregnant women. Of all 63 singleton pregnancies,17 gravidas were found at least one heterozygous SNP on PLAC4 mRNA in maternal plasma. Among them,3 pregnancies with a trisomy-21 fetus and 14 pregnancies with an euploid fetus were detected by the analysis of the RNA-SNP allelic ratio. The highest heterozygosity frequencies of five SNPs on gene PLAC4 were Rs8130833 and Rs4818219,which were estimated to be 0.278,0.343,respectively. Conclusion:The plasma placental RNA allelic ratio can be used for noninvasive prenatal detection of Downs Syndrome,if SNPs on PLAC4 mRNA in maternal plasma are heterozygous. The two SNPs with higher heterozygosity frequencies on gene PLAC4 were Rs8130833 and Rs4818219 in population of Southeast China.
查看全文   查看/发表评论  下载PDF阅读器
关闭