Publication details

Analýza volné fetální DNA v maternální plazmě s využitím STR lokusů

Title in English Analysis of Free Foetal DNA in Maternal Plasma Using STR Loci
Authors

VODIČKA Radek VRTĚL Radek PROCHÁZKA Martin ŠANTAVÁ Alena DUŠEK Ladislav VRNICKÁ Dita SINGH Rajesh KREJČIŘÍKOVÁ Eva SCHNEIDEROVÁ Eva ŠANTAVÝ Jiří

Year of publication 2006
Type Article in Periodical
Magazine / Source Časopis lékařů českých
MU Faculty or unit

Faculty of Medicine

Citation
Field Genetics and molecular biology
Keywords free foetal DNA, STR quantification, QF PCR
Description 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 assessment.

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