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Rapid carrier screening for beta-thalassemia by single-step allele-specific PCR and detection
Dollyn Liying Quek1, Yen-Yek Ng, Wen Wang
1School of Life Sciences and Chemical Technology, Ngee Ann Polytechnic, Singapore 599489, Singapore.
Objectives:
This study aimed to evaluate a rapid molecular carrier screening strategy for beta-thalassemia.
Design And Methods:
Allele-specific PCR was combined with amplicon detection by dissociation curve analysis of SYBR Green I fluorescence in a single step.
Results:
The presence of a particular mutation results in the amplification of a mutation-specific product and the dissociation temperature of each amplicon was highly reproducible.
Conclusions:
Homogeneous allele-specific PCR amplification and detection of multiple beta-globin mutations can serve as a rapid and inexpensive carrier screening tool.

