Detection of known thalassemia point mutations by snapback single-strand conformation polymorphism: The feasibility analysis

Objectives: To explore if snapback single-strand conformation polymorphism (snapback SSCP) can be applied to the detection of known thalassemia point mutations. Design and methods: We examined 13 types of known thalassemia point mutations by using snapback SSCP. Results: These 13 different thalassemia point mutations could be identified by snapback SSCP. Conclusions: Snapback SSCP can be applied to the detection of known thalassemia point mutations. The advantages of snapback SSCP are (1) it is simple as compared to PCR-ASO; (2) snapback SSCP is specific and stable once the conditions of snapback SSCP are optimized; (3) samples can be checked at any time without the limit of half-life of radioactive isotope; and (4) since PCR products used in snapback SSCP can be checked by using 2% agarose gel before snapback SSCP, misdiagnoses caused by false positive or false negative PCR can be reduced significantly in snapback SSCP.