Rapid prenatal detection of Down syndrome by homologous gene quantitative PCR / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 209-211, 2005.
Article
in Chinese
| WPRIM
| ID: wpr-321123
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Chromosomes, Human, Pair 1
/
Chromosomes, Human, Pair 21
/
Polymerase Chain Reaction
/
Reproducibility of Results
/
Sensitivity and Specificity
/
Down Syndrome
/
Phosphofructokinases
/
Diagnosis
/
Genetics
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2005
Type:
Article
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