Rapid diagnosis of 21 trisomy syndrome by fluorescence quantitative polymerase chain reaction.
- Author:
Cheng-xue JING
1
;
Xiang-zhi XIE
;
Qian ZHANG
;
Dan LAN
Author Information
- Publication Type:Journal Article
- MeSH: Child; Child, Preschool; Down Syndrome; diagnosis; genetics; Female; Fluorescence; Humans; Infant; Infant, Newborn; Male; Polymerase Chain Reaction; methods; Reproducibility of Results; Sensitivity and Specificity
- From: Chinese Journal of Medical Genetics 2004;21(4):398-399
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo establish a method of fluorescence quantitative PCR to detect 21 trisomy syndrome.
METHODSAt 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.
RESULTSThe 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.
CONCLUSIONSYBR Green I fluorescence quantitative polymerase chain reaction is an acurate, rapid, safe and practical approach for the detection of 21 trisomy syndrome.
