Rapid prenatal detection of Down syndrome by homologous gene quantitative PCR.
- Author:
Qian WANG
1
;
Chunlian JIN
;
Changkun LIN
;
Hong PANG
;
Kailai SUN
Author Information
- Publication Type:Journal Article
- MeSH: Chromosomes, Human, Pair 1; genetics; Chromosomes, Human, Pair 21; genetics; Down Syndrome; diagnosis; genetics; Female; Humans; Phosphofructokinases; genetics; Polymerase Chain Reaction; methods; Pregnancy; Prenatal Diagnosis; methods; Reproducibility of Results; Sensitivity and Specificity
- From: Chinese Journal of Medical Genetics 2005;22(2):209-211
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo evaluate the use of homologous gene quantitative PCR (HGQ-PCR) as a method for non-invasive diagnosis of Down syndrome and for prevention of the birth of Down syndrome children.
METHODSHGQ-PCR, which can directly detect the additional copy of chromosome 21 by comparing simultaneously amplified two highly homologous genes, i.e. the human liver-type phosphofructokinase located on chromosome 21 critical region of Down syndrome (PFKL-CH21) and the human muscle-type phosphofructokinase located on chromosome 1 (PFKM-CH1), was performed in 38 clinically diagnosed Down syndrome patients and 178 normal controls.
RESULTSThe ratios of PFKM-CH1/PFKL-CH21 products were 1.40 +/- 0.367 (mean +/- SD) and 0.46 +/- 0.21 (mean +/- SD) for disomy 21 and trisomy 21, respectively. The difference between these two groups was statistically significant (P<0.001).
CONCLUSIONThis approach has proven to be a practical and direct method for the detection of trisomy 21 and may also be applied to the detection of the extra piece of 21q involved in translocation-type of Down syndrome.
