日本最常见的葡萄糖-6-磷酸脱氢酶变异体G6PD小南和G6PD宇部的分子异常。
Molecular abnormality of G6PD Konan and G6PD Ube, the most common glucose-6-phosphate dehydrogenase variants in Japan.
作者信息
Hirono A, Fujii H, Miwa S
机构信息
Okinaka Memorial Institute for Medical Research, Tokyo, Japan.
出版信息
Hum Genet. 1993 Jun;91(5):507-8. doi: 10.1007/BF00217781.
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.
G6PD小南和G6PD宇部是在日本发现的最常见的葡萄糖-6-磷酸脱氢酶（G6PD）变体。为了阐明这两种变体的分子异常情况，通过聚合酶链反应从基因组DNA（G6PD小南）或cDNA（G6PD宇部）中扩增出整个编码区。直接测序显示，这两种变体在第4外显子中具有相同的核苷酸替换（241C突变为T），这预示着第81位氨基酸由精氨酸替换为半胱氨酸。
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