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目的依据孕妇血浆中存在游离胎儿DNA的理论,从孕妇外周血浆中分离出胎儿DNA并加以鉴定,预防X连锁遗传病患儿的出生。方法从孕早期、中期及晚期共80名孕妇外周血浆中分离胎儿DNA,采用实时荧光定量PCR(real-time fluorescence quantitative polymerase chain-reaction,FQ-PCR)方法对不同妊娠状态下孕妇外周血中游离的胎儿DNA(fDNA)进行定量分析,初步探讨游离fDNA在不同妊娠状态下的浓度变化,为尽早应用于临床提供科学依据。结果早孕组28例血浆标本中有25例检测到U-MASPIN基因,其平均浓度为57.82拷贝数/ml;中孕组20例血浆标本中均检测到U-maspin基因,其平均浓度为153.08拷贝数/ml;晚孕组32例血浆标本中均检测到U-maspin基因,其平均浓度为219.34拷贝数/ml,组间两两比较,差异有极显著意义(P<0.01)。结论用实时荧光定量PCR的方法最早在孕72天的孕妇外周血浆中就可以检测到胎儿U-maspin基因,随孕周的增加,母血中胎儿DNA的量也在逐渐增加。实时荧光定量PCR技术在进行无创伤性产前性别诊断中有重要的价值。
Objective According to the theory of free fetal DNA in pregnant women’s plasma, fetus DNA was isolated from peripheral blood of pregnant women and identified to prevent the birth of children with X-linked genetic disease. Methods Fetal DNA was isolated from the peripheral blood of 80 pregnant women in early, middle and late pregnancy. FQ-PCR was used to detect fetal DNA in peripheral blood of pregnant women under different gestational conditions Fetal DNA (fDNA) quantitative analysis of the initial study of free fDNA in different pregnancy status of concentration changes for the clinical application as soon as possible to provide a scientific basis. Results U-MASPIN gene was detected in 25 of 28 plasma samples in early pregnancy group, with an average concentration of 57.82 copies / ml. The U-maspin gene was detected in 20 samples from the second trimester, with an average concentration of 153.08 copies Ml / ml. The U-maspin gene was detected in 32 plasma samples of late pregnancy group, with an average concentration of 219.34 copies / ml. There was significant difference (P <0.01) between the two groups. Conclusion The method of real-time PCR can detect the fetal U-maspin gene in the pregnant 72-day-old pregnant women as early as possible. With the increase of gestational age, the amount of fetal DNA in maternal blood is gradually increasing. Real-time fluorescence quantitative PCR in the non-invasive prenatal diagnosis of gender has an important value.