一种新的葡萄糖-6-磷酸脱氢酶变异体G6PD须贺（826C→T），表现为慢性溶血性贫血，出生后立即出现溶血性危机发作。
A new glucose-6-phosphate dehydrogenase variant G6PD Sugao (826C-->T) exhibiting chronic hemolytic anemia with episodes of hemolytic crisis immediately after birth.
作者信息
Taki M, Hirono A, Kawata M, Den M, Kurihara Y, Shimizu H, Yamada K, Fujii H, Miwa S
机构信息
Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.
出版信息
Int J Hematol. 2001 Aug;74(2):153-6. doi: 10.1007/BF02981998.
A case of glucose-6-phosphate dehydrogenase (G6PD) deficiency associated with chronic hemolysis with episodes of hemolytic crisis immediately after birth is reported. The propositus was a 1-month-old Japanese male infant. Molecular analysis of the G6PD gene revealed a novel missense mutation (826C-->4T) in exon 8 predicting a single amino acid substitution, Pro276Ser. The mother was confirmed to be heterozygous for this mutation. We designated this novel class 1 variant as G6PD Sugao. Pro276 is a phylogenetically conserved residue that may play a significant role in dimer formation.
报告了1例葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症合并慢性溶血的病例，该患儿出生后立即出现溶血性危机发作。先证者为一名1个月大的日本男婴。G6PD基因的分子分析显示，外显子8存在一个新的错义突变（826C→T），预测会发生单个氨基酸替代，即Pro276Ser。母亲被证实为该突变的杂合子。我们将这个新的1类变体命名为G6PD须贺。Pro276是一个在系统发育上保守的残基，可能在二聚体形成中起重要作用。
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