Rapid carrier screening for beta-thalassemia by single-step allele-specific PCR and detection.

作者信息

Quek Dollyn Liying, Ng Yen-Yek, Wang Wen, Tan Arnold S C, Tang-Lim Guek-Im, Ng Ivy S L, Law Hai-Yang, Chong Samuel S

机构信息

School of Life Sciences and Chemical Technology, Ngee Ann Polytechnic, Singapore 599489, Singapore.

出版信息

Clin Biochem. 2007 Mar;40(5-6):427-30. doi: 10.1016/j.clinbiochem.2007.01.003. Epub 2007 Jan 13.

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.