用母体外周血中胎儿游离DNA检测胎儿SRY基因的研究  

Detection of fetal SRY gene from cell-free fetal DNA in maternal peripheral blood

作　　者：王琼瑶[1] 宋志娇[1] 周围[1] 谢晓东[1] 童晓文[1] 纪亚忠[1] 

机构地区：[1]同济大学附属同济医院生殖医学科,上海200065

出　　处：《同济大学学报（医学版）》2013年第5期21-25,共5页Journal of Tongji University(Medical Science)

摘　　要：目的探索从孕妇外周血浆中检测胎儿躲y基因的高灵敏性及高准确性方法。方法应用PcR、实时荧光定量PcR、PEP—PcR技术，检测33例妊娠8～14周的正常孕妇血浆中游离胎儿DNA的脓y基因。组织标本躲y基因检测结果作为性别判定的标准。结果33例孕妇血浆标本检测职y基因，普通PcR检出的灵敏性为58．82％，特异性100％。PEP—PCR的灵敏性为88．24％，特异性100％。荧光定量PCR的灵敏性为88．24％，特异性100％。结论PEP—PCR技术和荧光定量PcR技术均可以提高胎儿游离DNA检测的灵敏度及准确性．可用于进一步染色体疾病的无创性产前筛查研究。Objective To detect fetal SRY （sex determining region of Y chromosome） gene from cell-free fetal DNA in maternal peripheral blood. Methods Peripheral blood samples were collected from 33 pregnant women with gestation 8 -12 weeks, who underwent artificial abortion. Cell-free fetal DNA was extracted from maternal plasma. The SRY gene from fetal DNA were detected by PCR, Real-Time quantitative PCR and primer-extension preamplification （PEP）-PCR, respectively, The detection of SRY gene from fetal tissues was used as gold standards. Results The sensitivity of PCR, PEP-PCR and Real-Time PCR for detection of SRY gene in maternal plasma was 58.82%, 88.24% and 88.24%, respectively. The specificity of three methods were all 100. 0%. Conclusion Both the PEP-PCR and Real-Time PCR techniques can improve the sensitivity and accuracy of SRY gene detection in maternal blood.

关 键 词：胎儿游离DNA 职y基因 产前诊断 实时荧光定量PCR 

分 类 号：R714.55[医药卫生—妇产科学]