title: Two cases of glucose-6-phosphate dehydrogenase-deficient Nepalese belonging to the G6PD Mediterranean-type, not India-Pakistan sub-type but Mediterranean-Middle East sub-type.
abstract: In Nepal, we tested 300 males for glucose-6-phosphate dehydrogenase (G6PD) activity. Two subjects were G6PD deficient (0.67%). Compared with normal controls, G6PD activity was 12% and 26%, respectively. The hemoglobin concentration of these two subjects was normal. We extracted genomic DNA from whole blood and read all sequences of G6PD. Both subjects had the same replacement of 563C>T, which was classified as G6PD Mediterranean. The amino acid might change from Ser to Phe at codon 188. These subjects also had a replacement of 1311C>T, which caused no replacement of an amino acid. A similar replacement pattern of G6PD Mediterranean is described from persons living in Mediterranean countries and Middle East countries. However, G6PD Mediterranean found in India and Pakistan has no replacement at nucleotide 1311. Thus, these two subjects in Kathmandu, Nepal, would be closer to people in Middle East countries than people in India. This is the first study of molecular analysis for G6PD deficiency in Nepal.
authors.affiliation: Department of Medical Zoology, Jichi Medical School, 3311-1 Yakushiji, Minamikawachi, Tochigi 329-0498, Japan. hiroyuki@jichi.ac.jp.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Matsuoka
authors.affiliation: Department of Medical Zoology, Jichi Medical School, 3311-1 Yakushiji, Minamikawachi, Tochigi 329-0498, Japan.
authors.forename: Wang
authors.initials: W
authors.lastname: Jichun
authors.affiliation: Department of Medical Zoology, Jichi Medical School, 3311-1 Yakushiji, Minamikawachi, Tochigi 329-0498, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Hirai
authors.affiliation: Department of Medical Zoology, Jichi Medical School, 3311-1 Yakushiji, Minamikawachi, Tochigi 329-0498, Japan.
authors.forename: Shigeto
authors.initials: S
authors.lastname: Yoshida
authors.affiliation: Department of Medical Zoology, Jichi Medical School, 3311-1 Yakushiji, Minamikawachi, Tochigi 329-0498, Japan.
authors.forename: Meiji
authors.initials: M
authors.lastname: Arai
authors.affiliation: Department of Medical Zoology, Jichi Medical School, 3311-1 Yakushiji, Minamikawachi, Tochigi 329-0498, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Ishii
authors.affiliation: Department of Biochemistry, National Institute of Science and Technology, Lainchour, Kathmandu, Nepal.
authors.forename: Madhav Prasad
authors.initials: MP
authors.lastname: Baral
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006801:Humans; D008297:Male; D019083:Mediterranean Region; D008877:Middle East; D009390:Nepal; D017354:Point Mutation
chemical_list: D005954:Glucosephosphate Dehydrogenase