title: Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Malays in Malaysia.
abstract: Multiplex polymerase chain reaction (PCR) using multiple tandem forward primers and a common reverse primer (MPTP) was recently established as a comprehensive screening method for mutations in X-linked recessive diseases. In the work reported here, MPTP was used to scan for mutations of the glucose-6-phosphate dehydrogenase (G6PD) gene. Mutations in exons 3,4,5,6,7,9, 11, and 12 of the G6PD gene were screened by MPTP in 93 unrelated Malaysian patients with G6PD deficiency. Of the 93 patients, 80 (86%) had identified mutations. Although all of these were missense mutations, identified nucleotide changes were heterogeneous, with 9 mutations involving various parts of the exons. These 9 mutations were G-to-A nucleotide changes at nucleotide 871 of the G6PD gene (G871A), corresponding to G6PD Viangchan, G6PD Mediterranean (C563T), G6PD Vanua Lava (T383C), G6PD Coimbra (C592T), G6PD Kaiping (G1388A), G6PD Orissa (C131G), G6PD Mahidol (G487A), G6PD Canton (G1376T), and G6PD Chatham (G1003A). Our results document heterogeneous mutations of the G6PD gene in the Malaysian population.
authors.affiliation: Haematology Department, School of Medical Sciences, University Science Malaysia, Kelantan. narazah@kb.usm.my
authors.forename: Narazah Mohd
authors.initials: NM
authors.lastname: Yusoff
authors.forename: Taku
authors.initials: T
authors.lastname: Shirakawa
authors.forename: Kaoru
authors.initials: K
authors.lastname: Nishiyama
authors.forename: Selamah
authors.initials: S
authors.lastname: Ghazali
authors.forename: Choo Keng
authors.initials: CK
authors.lastname: Ee
authors.forename: Ayako
authors.initials: A
authors.lastname: Orita
authors.forename: Wan Zaidah
authors.initials: WZ
authors.lastname: Abdullah
authors.forename: Mohd Nizam
authors.initials: MN
authors.lastname: Isa
authors.forename: Hans
authors.initials: H
authors.lastname: Van Rostenberghe
authors.forename: Masafumi
authors.initials: M
authors.lastname: Matsuo
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D018740:Genetic Heterogeneity; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D008296:Malaysia / Q000453:epidemiology; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D015995:Prevalence
chemical_list: D005954:Glucosephosphate Dehydrogenase