Rapid diagnosis of 21 trisomy syndrome by fluorescence quantitative polymerase chain reaction / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To establish a method of fluorescence quantitative PCR to detect 21 trisomy syndrome.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>SYBR Green I fluorescence quantitative polymerase chain reaction is an acurate, rapid, safe and practical approach for the detection of 21 trisomy syndrome.</p>