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

Li, W.; Gao, F.; Tang, W.; Zhang, X.; Zhang, H.

Clinical Biochemistry 39(8): 833-842

2006


ISSN/ISBN: 0009-9120
PMID: 16820146
DOI: 10.1016/j.clinbiochem.2006.05.004
Accession: 011937028

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Abstract
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. (c) 2006 The Canadian Society of Clinical Chemists. All rights reserved.