QUANTITATIVE FLUORESCENT POLYMERASE CHAIN REACTION (QFPCR) IN THE PRENATAL AND POSTNATAL DIAGNOSIS OF THE MOST FREQUENT ANEUPLOIDIES
Macek M Sr1,*, Krebsova A1,2, Brou_ková M1, Matj_ková M1, Machatková M1, Diblík J1, Sperling K2, Vorsanova S3, Kutsev S4, Zerova S5, Arbuzova S6, Chudoba D1, Novotná D1
*Corresponding Author: Associate Professor Milan Macek, Sr., MD, PhD, Centre of Reproductive Genetics, Institute of Biology and Medical Genetics, University Hospital Motol, Charles University, 2nd Medical School, V uvalu 84, Prague, CZ 150 06, Czech Republic; Tel.: +4202-2443-3534; Fax: +4202-2443-3525; E-mail: pavel.roubic@lfmotol.cuni.cz
page: 87

Abstract

The possibilities of the implementation of the quanti­tative fluorescent polymerase chain reaction (QFPCR) in the molecular genetic detection of the most frequent aneu­ploidies of chromosomes 13, 18, 21, X and Y for their prenatal and postnatal diagnosis, are summarized. The use of the new STR markers for chromosomes 13, 18 and 21 was verified, as well as of the already widely used ones for rapid prenatal diagnosis in high (genetic) risk pregnancies. The use of only 0.1 mL of amniotic fluid of the non adher­ent amniocytes, that are discarded with the first change of culture medium, degenerated cells from abortions, mola hydatidosa, also allow reliable aneuploidy detection. The QFPCR was also applied for reliable determination of paternity, discrimination of zygosity, ascertainment of the parental and meiotic origin of aneuploidies, for the detec­tion of the microchimerism of Y chromosome, of uni­parental disomy (UPD).

Quantitative fluorescent PCR detects submicroscop­ical partial monosomies and trisomies with mapping of their extent, fertilization disorders and malignization risk in different types of mola hydatidosa, for elucidation of slide and culture mischanges in prenatal diagnosis. Quan­titative fluorescent PCR also assures rapid diagnosis of severe prenatal disorders on any type of fetal cells in the range of first to third trimester. Rapid prenatal sex deter­mination is important in rational prenatal examination of X-linked metabolic and other disorders. These QFPCR studies are used for genetic counseling and for the study of the impact of the Chernobyl accident; different lifestyles and other exogenous factors; impact on the possible alter­ation of proportions of meiosis I and II, and of their mater­nal and parental origin.

Key words: Aneuploidy; Chromosomes 13, 18, 21, X, Y; Parental and meiotic origin of aneuploidies; Prenatal diagnosis; Quantitative fluorescent polymerase chain reac­tion (QFPCR); STR markers.




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