[Rapid prenatal detection of Down syndrome by homologous gene quantitative PCR].
OBJECTIVE
To 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.


METHODS
HGQ-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.


RESULTS
The 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).


CONCLUSIONS
This 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.
Wang
Qian
Q
Department of Medical Genetics, China Medical University, Shenyang, Liaoning, 110001 P. R. China.
Jin
Chunlian
C
Lin
Changkun
C
Pang
Hong
H
Sun
Kailai
K
D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D025221:Phosphofructokinases / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
D025221:Phosphofructokinases