title: Genetic variants of beta-globin gene in Thai malaria patients.
abstract: Hemoglobin E (E26K variant of beta-globin gene) causing hemoglobinopathy is commonly observed in parts of Thailand, regardless of the hematologic disadvantage of the homozygotes. In order to detect further variants of the beta-globin gene, we performed variation screening for exon 1 of the beta-globin gene in 64 adult patients with P. falciparum malaria, living in northwest Thailand. We identified E26K and two novel variants, 59C>T and IVS+1G>T. IVS+1G>T lies on the splice donor site, and a substitution of A for G at the same site (IVS+1G>A) is known to be linked to beta-thalassemia. Thus, the biological significance of IVS+1G>T and its association with malarial infection should be clarified in future studies.
authors.affiliation: Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
authors.forename: Izumi
authors.initials: I
authors.lastname: Naka
authors.forename: Jun
authors.initials: J
authors.lastname: Ohashi
authors.forename: Jintana
authors.initials: J
authors.lastname: Patarapotikul
authors.forename: Hathairad
authors.initials: H
authors.lastname: Hananantachai
authors.forename: Sornchai
authors.initials: S
authors.lastname: Looareesuwan
authors.forename: Katsushi
authors.initials: K
authors.lastname: Tokunaga
mesh_terms: D000818:Animals; D001609:Beta-Globulins / Q000235:genetics*; D014644:Genetic Variation; D006446:Hemoglobin E / Q000235:genetics; D006801:Humans; D016778:Malaria, Falciparum / Q000235:genetics*; D016133:Polymerase Chain Reaction; D013785:Thailand / Q000453:epidemiology
chemical_list: D001609:Beta-Globulins; D006446:Hemoglobin E