[Rapid diagnosis of Down's and Edward's syndrome by multiplex real-time quantitative PCR].
OBJECTIVE
To establish a multiplex real-time quantitative PCR method for diagnosis of Down's and Edward's syndrome.


METHODS
The sequences of the amyloid precursor protein gene (APP) in the Down's region of chromosome 21 and the thymidylate synthetase gene (TYMS) on chromosome 18 were co-amplified in the same tube. The relative quantitative index DeltaCT value was used to differentiate Down's and Edward's syndrome patient from healthy individual. Four groups of samples, including 36 blood samples from normal controls (group A), 15 amniotic fluid samples from normal pregnancies (group B), 21 samples from patients with Down's syndrome (group C) and 6 samples from patients with Edward's syndrome (group D), were investigated in the study.


RESULTS
The mean DeltaCT values of the four groups were -0.48+/-0.15, -0.49+/-0.12, -1.26+/-0.17 and 0.25+/-0.12 respectively. The DeltaCT value from group B was not different from that from group A (P>0.05). However, the DeltaCT values from group C and group D were significantly different from that from group A (P<0.01), and no overlapping was observed.


CONCLUSIONS
The DeltaCT values from multiplex real-time quantitative PCR could be used to rapidly diagnose Down's and Edward's syndrome simultaneously.
Sui
Jian-zhong
JZ
Guangzhou Key Laboratory of Reproduction and Genetics, the Third Affiliated Hospital of Guangzhou Medical College, Guangzhou, Guangdong, 510150 PR China.
Zhang
Hu-min
HM
Sun
Xiao-fan
XF
D000653:Amniotic Fluid; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013577:Syndrome; D014314:Trisomy