Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited disorder worldwide including southern China. G6PD gene mutations cause deficiency of the enzyme and a large spectrum of diseases. High-resolution DNA melting (HRM) assay was recently introduced as a rapid, inexpensive and effective method for genotyping. But there was a shortcoming of this method that hemizygous and homozygous genotypes were not easily distinguished from wild-types. Here we used improved HRM method for a small-scale screening of G6PD-deficient variants among people of Meizhou region. Then all amplicons were ascertained by direct DNA sequencing. These results indicated that HRM method was a major technical advance for G6PD mutations screening.
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This work was partially supported the National Science Foundation of China (contract/grant number 81101329 to Min Lin).
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Meichen Pan and Min Lin contributed equally to this study.
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Pan, M., Lin, M., Yang, L. et al. Glucose-6-phosphate dehydrogenase (G6PD) gene mutations detection by improved high-resolution DNA melting assay. Mol Biol Rep 40, 3073–3082 (2013). https://doi.org/10.1007/s11033-012-2381-6
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DOI: https://doi.org/10.1007/s11033-012-2381-6