title: [Use of quantitative fluorescence polymerase chain reaction in the invasive prenatal diagnosis of Down's syndrome].
abstract: A quantitative fluorescence polymerase chain reaction (QF-PCR) technique based on the determination of triple-dose chromosome-specific short tandem repeats (STR) has been recently developed for the prenatal diagnosis of numeral abnormalities of chromosomes 21, 18, 13 and X and Y. This investigation examined 55 blood samples from healthy donors, 17 amniotic fluid samples, 27 blood samples from children with regular trisomy 21, 1 sample with a translocation variant of Down's syndrome, and 3 samples with triploidy. The heterozygosity of 4 STR markers specific for chromosome 21 was determined, which were used in QF-PCR to detect Down's syndrome.
authors.forename: N V
authors.initials: NV
authors.lastname: Kriventsova
authors.forename: R A
authors.initials: RA
authors.lastname: Shokarev
authors.forename: V V
authors.initials: VV
authors.lastname: Avrutskaia
authors.forename: S Iu
authors.initials: SIu
authors.lastname: Kriger
authors.forename: N E
authors.initials: NE
authors.lastname: Klochkova
authors.forename: V S
authors.initials: VS
authors.lastname: Gimbut
authors.forename: I V
authors.initials: IV
authors.lastname: Kornienko
mesh_terms: D000483:Alleles; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004247:DNA / Q000097:blood / Q000235:genetics; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005453:Fluorescence; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D005819:Genetic Markers; D004247:DNA