
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
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MATERIALS AND METHODS
Our long term experience with QFPCR verified the protocol of Pertl et al. [9], with slight modifications described in detail, including interpretation problems (34). The analyses were performed on an ABI PRISM 310 (Applied BioSystems, Foster City, CA, USA). The panel of primers for the detection of aneuploidies of chromosomes 13, 18 and 21 was extended by us as well as for X and Y aneuploidy detection according to Cirigliano et al. [24,25,36] [Table 1(a)]. New STR markers for hetero-chromosomes that increase the genetic informativity and detection of their aneuploidy are documented on Table 1(b).
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