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[Rapid detection of trisomy 21 by quantitative polymerase chain reaction]
1Department of Medical Genetics, China Medical University, Shenyang 110001 P.R.China. Klsun@IRIS.CMU.EDU.CN
Objective:
Studying gene diagnosis of trisomy 21 by means of quantitative polymerase chain reaction(PCR).
Methods:
Polymorphic short tandem repeat(STR) at D21S11 served as the gene marker, and a pair of primers was synthesized. The samples from 11 normal subjects and 28 cases of trisomy 21 were analyzed by quantitative PCR.
Results:
10 normal subjects showed two bands with a ratio of 1:1, and a subject showed one band. Of 28 cases of trisomy 21, 24 cases showed two bands with a ratio of 2:1, 3 cases showed three bands with a ratio of 1:1:1, and 1 case showed one band.
Conclusion:
Polymorphic STR at D21S11 is a valuable gene marker for diagnosis of trisomy 21. Trisomy 21 can be diagnosed rapidly and accurately within 24 hours by quantitative PCR.