Rapid detection of trisomy 21 by quantitative PCR

  title={Rapid detection of trisomy 21 by quantitative PCR},
  author={Ferdinand von Eggeling and Michael Freytag and Raimund Fahsold and Bernhard Horsthemke and Uwe Claussen},
  journal={Human Genetics},
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… CONTINUE READING


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