Pertl B, Sekizawa A, Samura O, Orescovic I, Rahaim P T, Bianchi D W
Department of Pediatrics, Obstetrics and Gynecology, New England Medical Center and Tufts University School of Medicine, Boston, MA 02111, USA.
Hum Genet. 2000 Jan;106(1):45-9. doi: 10.1007/s004390051008.
The purpose of this study was to develop a fluorescent polymerase chain reaction (PCR) assay for the detection of circulating fetal DNA in maternal plasma. Maternal DNA extracted from plasma samples of pregnant women at term and newborn DNA isolated from cord blood were used to genotype 12 mother/child pairs at nine different polymorphic short tandem repeat loci. Multiplex fluorescent PCR was used to detect fetus-specific alleles in the corresponding maternal plasma samples. Fetus-specific alleles were found in all maternal plasma samples studied. Using these polymorphic repeat sequences, every mother/child pair was informative in at least four of nine loci. Paternally inherited fetal alleles were detected in 84% of informative short tandem repeats. This approach may have implications for non-invasive prenatal diagnosis. Compared with other fetal DNA detection systems that use fetus-derived Y sequences to detect only male fetal DNA in maternal plasma, our proposed technique can be applied to both female and male fetuses.
本研究的目的是开发一种荧光聚合酶链反应（PCR）检测方法，用于检测孕妇血浆中的循环胎儿DNA。从足月孕妇血浆样本中提取的母体DNA和从脐带血中分离的新生儿DNA，用于对12对母婴在9个不同的多态性短串联重复序列位点进行基因分型。采用多重荧光PCR检测相应孕妇血浆样本中的胎儿特异性等位基因。在所研究的所有孕妇血浆样本中均发现了胎儿特异性等位基因。利用这些多态性重复序列，每对母婴在9个位点中的至少4个位点上具有信息性。在84%的信息性短串联重复序列中检测到了父系遗传的胎儿等位基因。这种方法可能对非侵入性产前诊断具有重要意义。与其他利用胎儿来源的Y序列仅检测孕妇血浆中男性胎儿DNA的胎儿DNA检测系统相比，我们提出的技术可应用于女性和男性胎儿。
