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目的依据孕妇血浆中存在游离胎儿DNA的理论,评价从母体尿液中分离游离胎儿DNA的可行性及其在临床应用的可行性。方法提取41例健康孕妇尿液标本中游离胎儿DNA,经巢式PCR扩增其性别决定基因(sex-determ in ingregion Y,SRY),并引入X染色体上特异的内参照基因序列ATL1,同时以其丈夫及未孕女性的外周血作对照分析。结果 41例孕妇所孕胎儿22例为男性,19例为女性。22例怀有男胎孕妇尿液标本经SRY扩增后,8例为阳性,其中6例第1、2次扩增均为阳性,2例第2次扩增后方出现阳性扩增带;其余14例怀有男胎孕妇和19例怀有女胎孕妇尿液标本扩增结果均为阴性。结论孕妇尿液中的确存在着游离胎儿DNA,需进一步提高其检出阳性率。
Objective To evaluate the feasibility of free fetal DNA isolation from maternal urine based on the theory of free fetal DNA in pregnant women’s plasma and its feasibility in clinical application. Methods Free fetal DNA was extracted from urine samples of 41 healthy pregnant women. The sex-determ in gene (SRY) was amplified by nested PCR, and the specific internal reference gene sequence ATL1 on X chromosome was introduced. At the same time, Their husbands and non-pregnant women as control analysis of peripheral blood. Results Totally 41 fetuses in 41 pregnant women were male and 19 were female. Twenty-two cases of urine samples from pregnant women with male fetuses were positive after being amplified by SRY, of which 6 cases were positive for the first and second amplification and 2 cases were positive for amplification after the second amplification; Fourteen pregnant women with pregnant women and 19 pregnant women with pregnant women had negative urine specimen amplification results. Conclusion There is indeed free fetal DNA in the urine of pregnant women, which needs to be further improved to detect the positive rate.