Genetic variants of beta-globin gene in Thai malaria patients.
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.
Naka
Izumi
I
Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Ohashi
Jun
J
Patarapotikul
Jintana
J
Hananantachai
Hathairad
H
Looareesuwan
Sornchai
S
Tokunaga
Katsushi
K
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
D001609:Beta-Globulins; D006446:Hemoglobin E