title: A novel G473A mutation in the glucose-6-phosphate dehydrogenase gene.
abstract: Hereditary deficiency in human glucose-6-phosphate dehydrogenase (G6PD) is mostly caused by single nucleotide change in the G6PD gene which leads to single amino acid substitution. In 104 cases of Chinese children with G6PD deficiency, RT-PCR-DGGE (denaturing gradient gel electrophoresis) combined with DNA sequencing was carried out to screen the mutations within the coding region of G6PD gene. A novel missense mutation (G473A), predicting a Cys-to-Tyr substitution at codon 158, was identified in a male infant patient and confirmed in his mother. This G6PD variant (158 Tyr) showed decreased enzyme activity, belonging to WHO Class II. We designated this variant as G6PD Shenzhen by the birthplace of the propositus.
authors.affiliation: Lab of Molecular Hematology, Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital, Shenzhen, PR China. cxwbrian@yahoo.com.cn
authors.forename: Xiaowen
authors.initials: X
authors.lastname: Chen
authors.forename: Lijie
authors.initials: L
authors.lastname: Yue
authors.forename: Chengrong
authors.initials: C
authors.lastname: Li
authors.forename: Changgang
authors.initials: C
authors.lastname: Li
mesh_terms: D002681:China; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D020125:Mutation, Missense; D017422:Sequence Analysis, DNA
chemical_list: D005954:Glucosephosphate Dehydrogenase