SRY和maspin基因对胎儿游离DNA的检测效率

Detection efficiency of SRY gene and maspin gene for fetal free DNA

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 explore the feasibility of non-sex dependent epigenetic marker in detection of fetal free DNA in serum of pregnant women in order to replace SRY gene detection.Methods：SRY gene and different sequences of methylation maspin gene were selected to mark serum free DNA of pregnant women and non-pregnant women in order to conduct polymerase chain reaction（PCR） and methylation PCR detection, then the results were dealt with statistics.Results：The detection rate of SRY gene in serum DNA samples of pregnant women with male fetus was 93.9%; u-maspin （non-methylation sequences of maspin gene） was detected in pregnancy group only, the detection rate was 88.3%, there was no significant difference in detection rate of u-maspin between pregnancy group and non-pregnancy goup;there was no significant difference in detection rate of m-maspin （methylation sequences of maspin gene） between pregnancy group and non-pregnancy group.Conclusion：The u-maspin gene may be considered as a non-sex dependent specific marker of fetal DNA, compared to SRY gene, which is helpful to expand the extent of clinical application of noninvasive prenatal diagnosis.