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Updated: Aug 15, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
[Rapid prenatal detection of Down syndrome by homologous gene quantitative PCR]
Qian Wang1, Chunlian Jin, Changkun Lin
1Department of Medical Genetics, China Medical University, Shenyang, Liaoning, 110001 P. R. China.
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).
Conclusion:
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.
