|CZECH MEDICAL ASSOCIATION J. Ev. PURKYNĚ|
|Journals - Article|
|Česky / Czech version||Čas. Lék. čes, 2006, 145, pp. 133–137.|
Analysis of Free Foetal DNA in Maternal Plasma Using STR Loci
Vodička R., Vrtěl R., 1Procházka M., Šantavá A., 2Dušek L., Vrbická D.,Singh R., Krejčiříková E., Schneiderová E., Šantavý J.
Ústav lékařské genetiky a fetální medicíny FN, Olomouc 1Gynekologicko-porodnická klinika FN, Olomouc 2Centrum biostatistiky a analýz LF MU, Brno
Background. Problems of maternal and foetal genotype differentiation of maternal plasma in pregnant women are
solved generally by real-time systems. In this case the specific probes are used to distinguish particular genotype.
Mostly gonosomal sequences are utilised to recognise the male foetus. This work describes possibilities in free foetal
DNA detection and quantification by STR.
Methods and Results. Artificial genotype mixtures ranging from 0,2 % to 100 % to simulate maternal and paternal
genotypes and 27 DNA samples from pregnant women in different stage of pregnancy were used for DNA quantification
and detection. Foetal genotype was confirmed by biological father genotyping. The detection was performed
in STR from 21st chromosome Down syndrome (DS) responsible region by innovated (I) QF PCR which allows to
reveal and quantify even very rare DNA mosaics. The STR quantification was assessed in artificial mixtures of genotypes
and discriminability of particular genotypes was on the level of few percent. Foetal DNA was detected in 74 %
of tested samples.
Conclusions. The IQF PCR application in quantification and differentiation between maternal and foetal genotypes
by STR loci could have importance in non-invasive prenatal diagnostics as another possible marker for DS risk
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