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

RESULTS AND DISCUSSION

In Table 4 are documented the first results concerning the parental and meiotic origin of trisomy 21 in the stud­ied German, Russian and Ukrainian families, together with the analysis of the epidemiological data. They have been prepared for the case-control study of trisomy 21 and other most frequent aneuploidies, to examine the impact of the Chernobyl accident, different lifestyles and environ­mental and genetic factors on meiosis I and II errors, and of their parental origin. The presented data demonstrate that, in the Russian and Ukrainian families, there is no different proportion of paternal non-disjunction estimated for 5-10% [39] relative to the proportion of maternally derived cases. The proportion of the meiosis I errors varies between 63% (Berlin) and 77% (Rostov, Kiev), thus around 70% in agreement with the studies of Petersen and Mikkelsen [40] and Hassold and Sherman [41], except for the families from Moscow (93.9%). Further analysis of more families, of the proportion of errors of meiosis I and II, of maternal and paternal origin together with the results of the case-control and epidemiological studies, are under way in order to find out the possible impact of the Cher­nobyl accident, and other factors that might endanger the meiosis process.

 

 

 

Figure 1. The 1:1:1 height (area) peak ratio of the D21S11 marker demonstrates the trisomy 21 in the af­fected fetus. Comparison of the length of the PCR frag­ments in father and mother revealed a maternal origin of the extra chromosome 21. The retained heterozygosity of D21S11 in the fetus indicates that the non-disjunction occurred in meiosis I.

 

 

Figure 2. The 2:1 height (area) peak ratio of the D21S167 and D21S1411 markers demonstrates the tri­somy 21 in the affected child. Comparison of the length of the PCR fragments in father and mother revealed a pater­nal origin of the extra chromosome 21. The heterozygosity of D21S21411 and D21S167 in father is reduced to homozygosity in the affected child, indicating, that the non-disjunction occurred in meiosis II.

 

Table 2. Possible indications for quantitative fluorescent polymerase chain reaction (QFPCR) examination.

 

 Table 3. Results of prenatal QFPCR examination of aneuploidies of chromosomes 13, 18, 21, X and Y (2000-2003). (All QFPCR results were confirmed by cytogenetic analysis except the cases with mola hydatidosa and abortions because of cell/tissue degeneration and thus cultivation.)

 

 Table 4. Parental and meiotic origin of trisomy 21 in German, Russian and Ukranian families, ascertained by quantitative fluorescent polymerase chain reaction (QFPCR).

 




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