[Use of quantitative fluorescence polymerase chain reaction in the invasive prenatal diagnosis of Down's syndrome].
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.
Kriventsova
N V
NV
Shokarev
R A
RA
Avrutskaia
V V
VV
Kriger
S Iu
SIu
Klochkova
N E
NE
Gimbut
V S
VS
Kornienko
I V
IV
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*
D005819:Genetic Markers; D004247:DNA