孕妇血浆中胎儿游离核酸Y染色体STR复合扩增的应用  

Application of Multiple PCR of 17 Y-Chromosome Specific STR Loci in Maternal Plasma

作　　者：荣媛[1] 高嘉嘉[1] 姜新强[1] 涂建成[1] 郑芳[1] 

机构地区：[1]武汉大学中南医院基因诊断中心,湖北武汉430071

出　　处：《武汉大学学报（医学版）》2012年第2期206-210,共5页Medical Journal of Wuhan University

摘　　要：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 develop a reliable method for determination of fetal gender from maternal plasma by multiple PCR of Y-chromosome specific STR and to discuss its preliminary application in the noninvasive prenatal paternity testing.Methods： Cell-free DNA was isolated from 23 samples of maternal plasma and amplified using ABI ampFLSTR Yfiler kits.Gender of fetuses was confirmed by amnionic fluid.Results： In the sixteen cases of male fetuses,all cases were successfully amplified between five and twelve fetal loci.All the amplified fetal alleles matched the alleles of amnionic fluid.Of nine non-paternity father/child pairs which has been previously confirmed by using ampFLSTR Identifiler kit,eight cases were successfully excluded.Conclusion： ABI ampFLSTR Yfiler was found to be fully reliable as it amplified Y-chromosome in all cases of male fetuses,and thus 100% correct in determining fetal gender.In addition,it enabled the preliminary exclusion by comparison of polymorphic Y-chromosome loci between alleged father and fetus in the noninvasive prenatal paternity testing.

关 键 词：游离胎儿DNA Y-STR 无创性产前亲子鉴定 胎儿性别鉴定 

分 类 号：R714.52[医药卫生—妇产科学]