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目的:探讨利用孕妇血浆中游离胎儿DNA通过复合扩增Y染色体上的STR进行胎儿性别鉴定及其应用在产前无创性亲子鉴定中的可能性。方法:收集23例12-28孕周的孕妇外周血以及血浆,同时收集胎儿羊水标本以及可疑父亲的外周血标本,提取DNA,利用ABI Identifiler以及ABI Yfiler扩增系统复合扩增常染色体以及Y染色体上的STR位点,扩增产物经ABI 3130基因测序仪分析,用GeneMapper ID 3.2软件分析。结果:23例孕妇中,有16例孕妇经羊水Identifiler系统验证为男性胎儿,该16例孕男胎的孕妇血浆DNA的Y染色体STR位点扩增成功率100%,扩增出位点数目5-12个不等;并将其分型结果与羊水标本相比较,结果均一致;同时将其与可疑父亲的Y染色体STR位点分型结果相比较,在9例经ABI identifiler验证为非父子关系的案例中有8例可以成功排除其父子关系。结论:利用位于Y染色体上的STR位点进行多位点复合扩增可以明显提高胎儿性别鉴定的准确率,同时将其应用于产前无创性亲子鉴定中,可用于亲缘关系的初步排除。
OBJECTIVE: To explore the possibility of using fetus DNA from pregnant women ’s maternal plasma to amplify fetus sex chromosome by using STR on Y chromosome and its application in prenatal noninvasive paternity test. Methods: Twenty-three pregnant women (12-28 gestational weeks) were collected for peripheral blood and plasma samples. Meanwhile, fetal amniotic fluid samples and peripheral blood samples of suspected father were collected. DNA was extracted and amplified by ABI Identifiler and ABI Yfiler amplification system. On the STR site, amplified products by ABI 3130 gene sequencer analysis, with GeneMapper ID 3.2 software analysis. Results: Of the 23 pregnant women, 16 pregnant women were verified as male fetuses by amniotic fluid Identifiler system. The success rate of amplification of the Y chromosome STR locus in the DNA of pregnant women of the 16 pregnant women was 100% -12, and its typing results were compared with the amniotic fluid samples, the results were the same; at the same time, it was compared with the Y chromosome STR loci typing results of suspicious fathers, in 9 cases of non-fathers and sons verified by ABI identifiler Eight of the cases in the relationship succeeded in excluding their father-son relationship. Conclusion: The use of STR loci on Y chromosome for multi-locus multiplex amplification can significantly improve the accuracy of fetus sex identification. At the same time, it can be used in prenatal non-invasive paternity testing and can be used for the preliminary exclusion of kinship.