Molecular abnormality of G6PD Konan and G6PD Ube,the most common glucose-6-phosphate dehydrogenase variants in Japan |
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| Authors: | Akira Hirono Hisaichi Fujii Shiro Miwa |
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| Institution: | (1) Okinaka Memorial Institute for Medical Research, 2-2-2 Toranomon, Minato-ku, 105 Tokyo, Japan;(2) Department of Blood Transfusion Medicine, Tokyo Women's Medical College, 8-1 Kawada-cho, Shinjuku-ku, 162 Tokyo, Japan |
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| Abstract: | G6PD Konan and G6PD Ube are the most common glucose-6-phosphate dehydrogenase (G6PD) variants found in Japan. To clarify the molecular abnormality of these two variants, the entire coding region was amplified by polymerase chain reaction from genomic DNA (G6PD Konan) or cDNA (G6PD Ube). Direct sequencing revealed that both variants have the same nucleotide substitution (241 C to T) in exon 4, which predicts an Arg to Cys substitution at amino acid 81. |
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