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Mol Biol Rep. 2013 Apr;40(4):3073-82. doi: 10.1007/s11033-012-2381-6. Epub 2012 Dec 29.

Glucose-6-phosphate dehydrogenase (G6PD) gene mutations detection by improved high-resolution DNA melting assay.

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Medical Laboratory, First Affiliated Hospital of Shantou University Medical College, No. 57 Changping Road, Shantou, 515041 Guangdong, People's Republic of China.


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.

[Indexed for MEDLINE]

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