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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、中期共78名孕妇外周血浆中分离胎儿DNA,用实时荧光定量聚合酶链反应(fluorescence quantitative polymerase chain reaction,FQ-PCR)的方法检测其中的Y性别决定区(sex-determining region Y,SRY)基因。结果孕早期怀男胎的孕妇28名,25名SRY基因阳性,其平均浓度为(58.82±25.22)拷贝/ml;孕中期怀男胎的孕妇20名,SRY基因均为阳性,平均为(152.08±62.61)拷贝/ml;怀女胎的孕妇均为阴性。结论用实时荧光定量PCR的方法最早在孕62天的孕妇外周血浆中就可以检测到胎儿SRY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 peripheral blood of 78 pregnant women in the early and middle stages of pregnancy. The sex-determining region (Y) was detected by real-time fluorescence quantitative polymerase chain reaction (FQ-PCR) Y, SRY) genes. RESULTS: Twenty-eight pregnant women and 25 SRY genes were positive in the first trimester of pregnancy. The average concentration of SRY gene was (58.82 ± 25.22) copies / ml. Twenty pregnant women with the second trimester of pregnancy had SRY gene positive with an average of (152.08 ± 62.61 copies / ml; pregnant women pregnant women were negative. Conclusion The method of real-time fluorescence quantitative PCR can detect the fetal SRY gene in the pregnant maternal peripheral blood as early as 62 days pregnant. 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.