Application of real-time fluorescence quantitative PCR to rapid molecular detection of Down's syndrome.
OBJECTIVE
To develop a rapid and reliable technique for the detection of Down's syndrome.


METHODS
The peripheral blood samples were collected from twenty-five Down's syndrome patients and fifty normal individuals. Four polymorphic loci on chromosomes 21, 1, 19 were amplified by real-time fluorescence quantitative PCR, and then four pairs of deltaCt values were analytically compared between the two groups.


RESULTS
The deltaCt values of Down's syndrome patients were significantly lower than those of normal individuals, and the reference ranges for clinical application were primarily established. The difference between the two groups was highly significant (P < 0.001), and the reference ranges between the two groups were not overlapped. Real-time quantitative PCR technique can effectively differentiates Down's syndrome samples from the normal fetuses; furthermore, the results were consistent with those of the karyotype analysis.


CONCLUSIONS
Real-time quantitative PCR is a fast and reliable method that may provide a new approach for rapid detection of Down's syndrome.
Huang
Yi-ning
YN
Affiliated Guangzhou Maternal & Neonatal Hospital, Guangzhou Medical College, Guangzhou, Guangdong, P. R. China.
Liao
Can
C
Tu
Xin-zhi
XZ
Yang
Xin
X
Yi
Cui-xing
CX
Li
Li-xian
LX
D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*; D015203:Reproducibility of Results