title: Adaptation of PCR technique for quantitative estimation of genetic material from different regions of chromosome 21 in cases of trisomy 21.
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.
authors.affiliation: Department of Molecular Genetics, University of Lodz, Łódź, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Nowacka
authors.forename: Zofia
authors.initials: Z
authors.lastname: Helszer
authors.forename: Zofia
authors.initials: Z
authors.lastname: Walter
authors.forename: Andrzej
authors.initials: A
authors.lastname: Płucienniczak
authors.forename: Bogdan
authors.initials: B
authors.lastname: Kazewski
mesh_terms: D016564:Amyloid beta-Protein Precursor / Q000235:genetics; D001483:Base Sequence; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004247:DNA / Q000302:isolation & purification; D004314:Down Syndrome / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods*; D009418:S100 Proteins / Q000235:genetics; D013482:Superoxide Dismutase / Q000235:genetics
chemical_list: D016564:Amyloid beta-Protein Precursor; D009418:S100 Proteins; D004247:DNA; D013482:Superoxide Dismutase