Rapid diagnosis of aneuploidy in chromosomes 13, 18, 21, X and Y by quantitative fluorescence-PCR combined with short tandem repeat and fluorescence-labeled homologous gene quantitative‑PCR using 4-color fluorescently labeled universal primers

Mol Med Rep. 2013 Nov;8(5):1601-5. doi: 10.3892/mmr.2013.1678. Epub 2013 Sep 13.

Abstract

The present study aimed to develop a rapid diagnostic test of aneuploidy in chromosomes 13, 18, 21, X and Y through a program combining short tandem repeat (STR) typing with fluorescence-labeled homologous gene quantitative‑polymerase chain reaction (fHGQ-PCR), which avoids misjudgment risks by using one method alone. Furthermore, fluorescently labeled universal primers not only ensure the accuracy of the results but also reduces the cost of fluorescent labels. The verification of DNA extracted from samples confirmed by karyotype analysis with quantitative fluorescence (QF)-PCR shows that the results obtained using the QF-PCR program are consistent with the results of karyotype analysis in rapidly diagnosing the aneuploidy of chromosomes 13, 18, 21, X and Y.

MeSH terms

  • Aneuploidy*
  • Chromosomes, Human, Pair 13 / genetics*
  • Chromosomes, Human, Pair 18 / genetics*
  • Chromosomes, Human, Pair 21 / genetics*
  • Chromosomes, Human, X / genetics*
  • Chromosomes, Human, Y / genetics*
  • DNA Primers / genetics
  • Fluorescence
  • Humans
  • Real-Time Polymerase Chain Reaction / methods*
  • Tandem Repeat Sequences / genetics*
  • Trisomy / diagnosis*
  • Trisomy / genetics

Substances

  • DNA Primers