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目的:探讨应用非性别依赖的表观遗传学标记代替SRY基因检测孕妇血浆中胎儿游离DNA的可行性。方法:分别以SRY基因和不同甲基化状态的maspin基因序列为标记对孕妇和非妊娠女性血浆中的游离DNA进行PCR和甲基化PCR检测,并对结果进行统计学分析。结果:孕男胎孕妇血浆DNA标本中SRY基因的检出率为93.9%。u-maspin(maspin基因的非甲基化序列)仅在妊娠组中被检测出,检出率88.3%。两检出率间的差异不具有统计学意义。m-maspin(maspin基因的甲基化序列)在妊娠组和非妊娠组中的检出率无差异。结论:u-maspin基因可作为非性别依赖的胎儿DNA特异性标志物,相对于以SRY基因作为标志物有助于扩大非创伤性产前诊断的临床应用范围。
Objective: To investigate the feasibility of using non-sex-dependent epigenetic markers instead of SRY to detect fetal DNA in pregnant women. Methods: The free DNA in the plasma of pregnant women and nonpregnant women were detected by PCR and methylation PCR with SRY gene and maspin gene sequences of different methylation status respectively, and the results were statistically analyzed. Results: The detection rate of SRY gene in plasma DNA from pregnant women was 93.9%. u-maspin (unmethylated sequence of maspin gene) was detected only in pregnancy group, with a detection rate of 88.3%. The difference between the two detection rates did not reach statistical significance. There was no difference in the detection rate of m-maspin (maspin gene methylation sequence) between pregnant and non-pregnant groups. CONCLUSION: The u-maspin gene can be used as a non-sex-specific fetal DNA specific marker, which is helpful to expand the clinical application of non-invasive prenatal diagnosis in comparison with SRY gene as a marker.