title: Glucose-6-phosphate dehydrogenase (G6PD) gene mutations detection by improved high-resolution DNA melting assay.
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.
authors.affiliation: Medical Laboratory, First Affiliated Hospital of Shantou University Medical College, No. 57 Changping Road, Shantou, 515041 Guangdong, People's Republic of China. missmeichen@163.com
authors.forename: Meichen
authors.initials: M
authors.lastname: Pan
authors.forename: Min
authors.initials: M
authors.lastname: Lin
authors.forename: Lin
authors.initials: L
authors.lastname: Yang
authors.forename: Jiaoren
authors.initials: J
authors.lastname: Wu
authors.forename: Xiaofen
authors.initials: X
authors.lastname: Zhan
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhao
authors.forename: Yingfang
authors.initials: Y
authors.lastname: Wen
authors.forename: Guirong
authors.initials: G
authors.lastname: Liu
authors.forename: Liye
authors.initials: L
authors.lastname: Yang
authors.forename: Yingmu
authors.initials: Y
authors.lastname: Cai
mesh_terms: D044466:Asian People; D002681:China; D060005:Genotyping Techniques / Q000379:methods*; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009691:Nucleic Acid Denaturation; D017422:Sequence Analysis, DNA
chemical_list: D005954:Glucosephosphate Dehydrogenase