title: [Analysis of free foetal DNA in maternal plasma using STR loci].
abstract: 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.
  
  
  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.
authors.affiliation: Ustav lékatské genetiky a fetální medicíny FN, Olomouc. vodickar@fnol.cz
authors.forename: R
authors.initials: R
authors.lastname: Vodicka
authors.forename: R
authors.initials: R
authors.lastname: Vrtel
authors.forename: M
authors.initials: M
authors.lastname: Procházka
authors.forename: A
authors.initials: A
authors.lastname: Santavá
authors.forename: L
authors.initials: L
authors.lastname: Dusek
authors.forename: D
authors.initials: D
authors.lastname: Vrbická
authors.forename: R
authors.initials: R
authors.lastname: Singh
authors.forename: E
authors.initials: E
authors.lastname: Krejciríková
authors.forename: E
authors.initials: E
authors.lastname: Schneiderová
authors.forename: J
authors.initials: J
authors.lastname: Santavý
mesh_terms: D004247:DNA / Q000097:blood*; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D005333:Fetus / Q000378:metabolism*; D005838:Genotype; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D020080:Tandem Repeat Sequences
chemical_list: D004247:DNA