孕妇血浆中SRY基因检测在产前诊断中的应用

摘要

Objective To investigate the concentration of sex-determining region Y ( SRY) gene in pregnant plasma ,selecting the best detection period of SRY to use fetal DNA in maternal plasma for non-invasive prenatal diagnosis of Sex determination and X-linked recessive hereditary disease .Methods The real-time fluorescence quantitative polymerase chain-reaction (FQ-PCR) was used to determine SRY gene in 60 cases of 4~40 weeks of normal pregnant women plasma .Results Of the 60 cases of pregnancy ,there were 42 cases with SRY .SRY gene in maternal plasma can be detected as early as the 7th week of gestation . With the increasing of gestational age ,the concentration of the SRY gene also gradually increased .Conclusion The detection of SRY gene in pregnant plasma have great value in the sex-linked disorders diagnosis and gender prenatal diagnosis .%目的：探讨不同妊娠时期孕妇外周血中SRY基因的浓度变化，选择最佳的SRY基因检测时期，利用孕妇外周血中胎儿DNA进行产前性别鉴定及X连锁隐性遗传病的产前基因诊断。方法应用实时荧光定量PCR扩增技术，对60例4～40周正常孕妇血浆中胎儿DNA进行SRY基因的PCR扩增。结果60例孕妇血浆胎儿SRY基因检测阳性结果有42例，检测用实时荧光定量PCR的方法最早在孕7周的血浆中检测到胎儿SRY基因，随着孕周的增加，SRY基因的浓度也逐渐增加。结论实时荧光定量PCR技术检测孕妇血浆中的胎儿DNA SRY基因，在产前性别诊断和一些遗传性疾病产前诊断有重要的意义。