通过回折单链构象多态性检测已知地中海贫血点突变：可行性分析

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

作者信息

Li Wei, Gao Feng, Tang Weizhong, Zhang Xuerong, Zhang Haitian

机构信息

Medical Science Research Center, Guangxi Medical University, and Department of Anal and Colorectal Surgery, The First Affiliated Hospital of Guangxi Medical University, PR China.

出版信息

Clin Biochem. 2006 Aug;39(8):833-42. doi: 10.1016/j.clinbiochem.2006.05.004. Epub 2006 May 26.

DOI:10.1016/j.clinbiochem.2006.05.004

PMID:16820146

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.

摘要

目的

探讨快速回折单链构象多态性（快速回折SSCP）是否可应用于已知地中海贫血点突变的检测。

设计与方法

我们使用快速回折SSCP检测了13种已知的地中海贫血点突变。

结果

这13种不同的地中海贫血点突变可通过快速回折SSCP鉴定出来。

结论

快速回折SSCP可应用于已知地中海贫血点突变的检测。快速回折SSCP的优点有：（1）与PCR-ASO相比，它操作简单；（2）一旦快速回折SSCP的条件优化后，其特异性和稳定性良好；（3）样本可随时检测，不受放射性同位素半衰期的限制；（4）由于快速回折SSCP中使用的PCR产物在进行快速回折SSCP之前可用2%琼脂糖凝胶检测，因此在快速回折SSCP中可显著减少由PCR假阳性或假阴性导致的误诊。