[Rapid diagnosis of 21 trisomy syndrome by fluorescence quantitative polymerase chain reaction].
OBJECTIVE
To establish a method of fluorescence quantitative PCR to detect 21 trisomy syndrome.


METHODS
At first, using one pair of primer to simultaneously amplify different fragments of two highly homologous genes of the human liver-type phosphofructokinase located on chromosome 21 (PFKL-CH21) and the human muscle-type phosphofructokinase located on chromosome 1 (PFKM-CH1). Then, staining the PCR products of these homologous genes with SYBR Green I, comparing the fluorescence intensities of the bands after electrophoresis, and analyzing the data.


RESULTS
The relative fluorescence intensity ratios of PFKL-CH21/PFKM-CH1 in 21 trisomy syndrome and normal individuals were 1.58+/-0.17 (mean+/-SD) and 1.00+/-0.05 (mean+/-SD), respectively; the difference between the two groups was highly significant.


CONCLUSIONS
SYBR Green I fluorescence quantitative polymerase chain reaction is an acurate, rapid, safe and practical approach for the detection of 21 trisomy syndrome.
Jing
Cheng-xue
CX
Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, 530021 PR China. chengxuejing@yahoo.com.cn
Xie
Xiang-zhi
XZ
Zhang
Qian
Q
Lan
Dan
D
D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005453:Fluorescence; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity