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Refined fluorescent STR quantification of cell-free fetal DNA during pregnancy in physiological and ...

VODIČKA, Radek, Radek VRTĚL, Ladislav DUŠEK, Martin PROCHÁZKA, Eva SCHNEIDEROVÁ, Dita VRBICKÁ, Eva KREJČIŘÍKOVÁ, Ishraq DHAIFALAH, Alena ŠANTAVÁ a Jiří ŠANTAVÝ. Refined fluorescent STR quantification of cell-free fetal DNA during pregnancy in physiological and Down syndrome fetuses. Prenatal Diagnosis, 2008, roč. 28, č. 5, s. 425-433. ISSN 0197-3851. doi:10.1002/pd.1996.
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Základní údaje
Originální název Refined fluorescent STR quantification of cell-free fetal DNA during pregnancy in physiological and Down syndrome fetuses
Autoři VODIČKA, Radek, Radek VRTĚL, Ladislav DUŠEK, Martin PROCHÁZKA, Eva SCHNEIDEROVÁ, Dita VRBICKÁ, Eva KREJČIŘÍKOVÁ, Ishraq DHAIFALAH, Alena ŠANTAVÁ a Jiří ŠANTAVÝ.
Vydání Prenatal Diagnosis, 2008, 0197-3851.
Další údaje
Originální jazyk angličtina
Typ výsledku Článek v odborném periodiku
Obor Genetika a molekulární biologie
Stát vydavatele Spojené státy americké
Utajení není předmětem státního či obchodního tajemství
Impakt faktor Impact factor: 1.596
Organizační jednotka Lékařská fakulta
Doi http://dx.doi.org/10.1002/pd.1996
UT WoS 000256649900011
Klíčová slova anglicky cell-free fetal DNA; noninvasive prenatal diagnosis; Down syndrome; short tandem repeats; capillary electrophoresis
Změnil Změnil: Mgr. Jakub Gregor, Ph.D., učo 16577. Změněno: 16. 1. 2014 12:29.
Anotace
Background Cell-free fetal (cff) DNA analysis by short tandem repeats (STR) has the advantage of better recognizing the different genotypes. However, quantitative examination by quantitative fluorescent (QF) polymerase chain reaction (PCR) by STRs is limited to only a rough approximation. This project focuses on a more precise calculation of the relative cff DNA amount tested in the STRs’ loci. Methods The cff DNA was analyzed in 363 samples from 258 pregnant women with physiological fetuses in different stages of pregnancy (from 4–37 gestational weeks) separately in three STRs [D21S1435, D21S1446 and PentaD (pD)] and also by gonosomal sequences amelogenin gene, X/Y-linked/testis specific protein, Ylinked (AMELX/Y/TSPY). Seventeen samples of cff DNA from fetuses with Down syndrome (DS) were compared. We optimized the refined quantitative fluorescent (RQF) PCR for STRs in a particular locus. Results and Conclusions The cff DNA detection rate was 74% in at least one of the STRs. The efficiency decreased from shorter to longer PCR fragments. All three STR and gonosomal loci proved an increase in cff DNA during pregnancy. The stutter variability rate is greatest in short STR fragments and decreases as the STR fragments increase in length. Results showed that DS samples had a significantly higher amount of cff DNA.
VytisknoutZobrazeno: 19. 4. 2019 20:47

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