Adaptation of PCR technique for quantitative estimation of genetic material from different regions of chromosome 21 in cases of trisomy 21

Acta Biochim Pol. 2004;51(4):995-1001.

Abstract

Pre- and postnatal diagnosis of chromosomal aberrations is generally based on conventional cytogenetic analysis. In this paper, we have devised a quantitative polymerase chain reaction (Q-PCR) method to determine gene dose effects and applied it in cases of regular trisomy 21 as a model. The method is based on quantitative assessment of PCR products after using primers amplifying DNA fragments located in the pericentromeric, heterochromatic, euchromatic and telomeric regions of chromosome 21. A gene dose effect on the amount of PCR product in cases of trisomy 21 was confirmed. Moreover, a correlation between the amount of the PCR product of the examined sequences and their location in the chromosome was observed. The obtained results suggest that the Q-PCR technique can be applied in the diagnosis of aneuploidies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyloid beta-Protein Precursor / genetics
  • Base Sequence
  • Chromosomes, Human, Pair 21 / genetics*
  • DNA / isolation & purification
  • Down Syndrome / genetics*
  • Down Syndrome / metabolism
  • Humans
  • Molecular Sequence Data
  • Polymerase Chain Reaction / methods*
  • S100 Proteins / genetics
  • Superoxide Dismutase / genetics

Substances

  • Amyloid beta-Protein Precursor
  • S100 Proteins
  • DNA
  • Superoxide Dismutase