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

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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People
  • China
  • Genotyping Techniques / methods*
  • Glucosephosphate Dehydrogenase / genetics*
  • Glucosephosphate Dehydrogenase Deficiency / diagnosis
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Humans
  • Mutation
  • Nucleic Acid Denaturation*
  • Sequence Analysis, DNA

Substances

  • Glucosephosphate Dehydrogenase