RAPID DETECTION OF TRISOMY-21 BY QUANTITATIVE PCR
RAPID DETECTION OF TRISOMY-21 BY QUANTITATIVE PCR
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DOI：
10.1007/bf00205081
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发表时间：
1993-07-01
期刊：
影响因子：
5.3
通讯作者：
CLAUSSEN, U
中科院分区：
文献类型：
--
作者：
VONEGGELING, F;FREYTAG, M;CLAUSSEN, U
染色体非整倍体是导致胎儿丢失和遗传性疾病的主要原因。我们设计了一种基于聚合酶链反应（PCR）的检测方法，可以在1天内在15个胎儿细胞中进行产前检测。一对荧光素标记的引物引导扩增21号染色体上的人S100 B基因的216-bp片段。包括指导12号染色体上IGF 1基因的165-bp片段扩增的引物，以产生用于定量的内标物。31个PCR循环后，在自动激光荧光DNA测序仪上测定S100 B和IGF 1扩增产物的量。在三体细胞中，S100 B产物的相对量比正常细胞高约1.5倍。该测试可用于对从母体血液中分离的胎儿细胞进行的非侵入性产前诊断。
Chromosomal aneuploidy is a major cause of fetal loss and genetic disease. We have devised a polymerase chain reaction (PCR)-based test that allows prenatal detection of trisomy 21 in as few as 15 fetal cells within 1 day. A pair of fluorescein-tagged primers directs amplification of a 216-bp fragment of the human S100B gene on chromosome 21. Primers that direct amplification of a 165-bp fragment of the IGF1 gene on chromosome 12 are included to generate an internal standard for quantitation. After 31 cycles of PCR, the amounts of S100B and IGF1 amplification products are determined on an Automated Laser Fluorescent DNA Sequencer. In trisomic cells, the relative amount of the S100B product is approximately 1.5-fold higher than that from normal cells. The test may be useful for non-invasive prenatal diagnosis performed on fetal cells isolated from maternal blood.