title: G6PD Viangchan and G6PD Mediterranean are the main variants in G6PD deficiency in the Malay population of Malaysia.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked red blood cell enzymopathy common in malaria endemic areas. Individuals affected by this disease show a wide variety of clinical signs of acute hemolytic anemia. Mutations of the G6PD gene in the Malay population with G6PD deficiency in Kelantan, a state in North East Malaysia were studied. Ninety-three individuals with G6PD deficiency were subjected to mutation analysis of the G6PD gene using polymerase chain reaction based techniques of multiplex PCR. Of the ninety-three DNA samples studied, molecular defects were identified in 80 cases (86%). Variants were heterogeneous - 28.7% were found to have a G to A nucleotide change at nucleotide 871 of the G6PD gene (G871A), corresponding to G6PD Viangchan. The other major mutations were G6PD Mediterranean, G6PD Vanua Lava, G6PD Coimbra, G6PD Kaiping, G6PD Orissa, G6PD Mahidol, G6PD Canton and G6PD Chatham. These results showed that there are heterogeneous mutations of the G6PD gene associated with G6PD deficiency and that G6PD Viangchan and G6PD Mediterranean account for the main variants in G6PD deficiency among the Malay population in Malaysia.
authors.affiliation: Human Genome Center, Health Campus, University Science Malaysia, Kelantan, Malaysia.
authors.forename: Narazah Mohd
authors.initials: NM
authors.lastname: Yusoff
authors.forename: Taku
authors.initials: T
authors.lastname: Shirakawa
authors.forename: Kaoro
authors.initials: K
authors.lastname: Nishiyama
authors.forename: Choo Keng
authors.initials: CK
authors.lastname: Ee
authors.forename: Mohd Nizam
authors.initials: MN
authors.lastname: Isa
authors.forename: Masafumi
authors.initials: M
authors.lastname: Matsuo
mesh_terms: D044466:Asian People / Q000235:genetics; D001800:Blood Specimen Collection; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D019353:Endemic Diseases; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008288:Malaria / Q000453:epidemiology; D008296:Malaysia; D008297:Male; D015997:Neonatal Screening; D011110:Polymorphism, Genetic