Rapid and Reliable Detection of Glucose-6-Phosphate Dehydrogenase (G6PD) Gene Mutations in Han Chinese Using High-Resolution Melting Analysis Jing-bin.

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Rapid and Reliable Detection of Glucose-6-Phosphate Dehydrogenase (G6PD) Gene Mutations in Han Chinese Using High-Resolution Melting Analysis Jing-bin Yan, Hong-ping Xu, Can Xiong, Zhao-rui Ren, Guo-li Tian, Fanyi Zeng, Shu-zhen Huang The Journal of Molecular Diagnostics Volume 12, Issue 3, Pages 305-311 (May 2010) DOI: 10.2353/jmoldx.2010.090104 Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Screening for six G6PD mutations or polymorphisms containing A95G (A), A835T (B), G871A (C), C1004T (D), C1024T (E), and C1311T (F) in the Chinese population by high-resolution melting analysis. Differences in the melting curve shape can easily identify heterozygotes, hemizygotes, and wild-type alleles. The Journal of Molecular Diagnostics 2010 12, 305-311DOI: (10.2353/jmoldx.2010.090104) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Detection of adjacent mutations with a pair of primers in the same reaction and identification of two new mutations in the Chinese population (as confirmed by DNA sequencing). Mutations G392T and C406T could be distinguished based on melting curve shape (A). The hemizygote and heterozygote of C406T were confirmed by DNA sequencing (B and C). Melting curve differences between C1360T and G1340T are shown (D); the hemizygote and heterozygote of G1340T were also confirmed by DNA sequencing (E and F). The hemizygote and heterozygote of G487A and T517C yielded clearly distinct melting curves (G). The double heterozygote samples such as G1376T/IVS XI t93c and G1388A/IVS XI t93c could also be distinguished by HRM analysis (H). The Journal of Molecular Diagnostics 2010 12, 305-311DOI: (10.2353/jmoldx.2010.090104) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions