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日本的葡萄糖-6-磷酸脱氢酶变体

Glucose 6-phosphate dehydrogenase variants in Japan.

作者信息

Miwa S

出版信息

Hemoglobin. 1980;4(5-6):781-7. doi: 10.3109/03630268008997746.

DOI:10.3109/03630268008997746
PMID:7440223
Abstract

Fifty-four cases of glucose 6-phosphate dehydrogenase (G6PD) deficiency have so far been reported in Japan. Among them, 21 G6PD variants have been characterized. Nineteen out of the 21 variants were characterized in our laboratory and G6PD Heian and "Kyoto" by others. G6PD Tokyo, Tokushima, Ogikubo, Kurume, Fukushima, Yokohama, Yamaguchi, Wakayama, Akita, Heian and "Kyoto" were classified as Class 1, because all these cases showed chronic hemolytic anemia and severe enzyme deficiency. All these variants showed thermal instability. G6PD Mediterranean-like, Ogori, Gifu and Fukuoka were classified as Class 2, whereas G6PD Hofu, B(-) Chinese, Ube, Konan, Kamiube and Kiwa belonged to Class 3. All the 6 Class 3 variants were found as the results of the screening tests. The incidence of the deficiency in Japanese seems to be 0.1-0.5% but that of the cases which may slow drug-induced hemolysis would be much less. G6PD Ube and Konan appear to be relatively common in Japan.

摘要

到目前为止,日本已报告了54例葡萄糖6-磷酸脱氢酶(G6PD)缺乏症病例。其中,已鉴定出21种G6PD变体。21种变体中的19种是在我们实验室鉴定的,G6PD平安型和“京都型”是由其他实验室鉴定的。G6PD东京型、德岛型、荻洼型、久留米型、福岛型、横滨型、山口型、和歌山型、秋田型、平安型和“京都型”被归类为1类,因为所有这些病例均表现为慢性溶血性贫血和严重的酶缺乏。所有这些变体均表现出热不稳定。G6PD地中海样型、小郡型、岐阜型和福冈型被归类为2类,而G6PD府户型、B(-)中国型、宇部型、小南型、上宇部型和木和型属于3类。所有6种3类变体都是筛查试验的结果。日本人中这种缺乏症的发病率似乎为0.1-0.5%,但可能导致药物性溶血的病例发病率要低得多。G6PD宇部型和小南型在日本似乎相对常见。

相似文献

1
Glucose 6-phosphate dehydrogenase variants in Japan.日本的葡萄糖-6-磷酸脱氢酶变体
Hemoglobin. 1980;4(5-6):781-7. doi: 10.3109/03630268008997746.
2
Incidence and characteristics of glucose-6-phosphate dehydrogenase variants in Japan.日本葡萄糖-6-磷酸脱氢酶变异体的发病率及特征
Hum Genet. 1979 Oct 2;51(3):297-305. doi: 10.1007/BF00283398.
3
Two new glucose 6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: GD(-) Tokushima and GD(-) Tokyo.在日本发现的两种与先天性非球形细胞溶血性贫血相关的新的葡萄糖-6-磷酸脱氢酶变体:德岛GD(-)和东京GD(-) 。
Am J Hematol. 1976;1(4):433-42. doi: 10.1002/ajh.2830010408.
4
Molecular abnormality of G6PD Konan and G6PD Ube, the most common glucose-6-phosphate dehydrogenase variants in Japan.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。
Hum Genet. 1993 Jun;91(5):507-8. doi: 10.1007/BF00217781.
5
Four new electrophoretically slow-moving glucose 6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: Gd(-) Kurume, Gd(-) Fukushima, Gd(-) Yamaguchi and Gd(-) Wakayama.在日本发现的四种与先天性非球形细胞溶血性贫血相关的新的电泳慢动葡萄糖6-磷酸脱氢酶变异体:Gd(-)久留米、Gd(-)福岛、Gd(-)山口和Gd(-)和歌山。
Am J Hematol. 1978;5(2):131-8. doi: 10.1002/ajh.2830050208.
6
A unique electrophoretic slow-moving glucose 6-phosphate dehydrogenase variant (G6PD Asahikawa) with a markedly acidic pH optimum.一种独特的电泳迁移缓慢的葡萄糖6-磷酸脱氢酶变体(旭川葡萄糖6-磷酸脱氢酶),其最适pH值明显呈酸性。
Hum Genet. 1984;68(1):70-2. doi: 10.1007/BF00293876.
7
Molecular analysis of eight biochemically unique glucose-6-phosphate dehydrogenase variants found in Japan.对在日本发现的8种具有生物化学独特性的葡萄糖-6-磷酸脱氢酶变体的分子分析。
Blood. 1997 Jun 15;89(12):4624-7.
8
Three new electrophoretically normal glucose-6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: G6PD Ogikubo, Yokohama, and Akita.在日本发现三种与先天性非球形红细胞溶血性贫血相关的新的电泳正常的葡萄糖-6-磷酸脱氢酶变异体:G6PD 荻洼型、横滨型和秋田型。
Hum Genet. 1978 Nov 24;45(1):11-7. doi: 10.1007/BF00277568.
9
Haemolytic anaemia due to glucose-6-phosphate dehydrogenase (G6PD) deficiency: demonstration of two new biochemical variants, G6PD Hamm and G6PD Tarsus.葡萄糖-6-磷酸脱氢酶(G6PD)缺乏所致的溶血性贫血:两种新的生化变异型G6PD Hamm和G6PD Tarsus的证实。
Br J Haematol. 1976 Jul;33(3):363-70. doi: 10.1111/j.1365-2141.1976.tb03552.x.
10
Identification of two novel deletion mutations in glucose-6-phosphate dehydrogenase gene causing hemolytic anemia.葡萄糖-6-磷酸脱氢酶基因中两个导致溶血性贫血的新型缺失突变的鉴定。
Blood. 1995 Feb 15;85(4):1118-21.

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Gd(-) Gifu and Gd(-) Fukuoka. Two new variants of glucose-6-phosphate dehydrogenase found in Japan.岐阜型和福冈型葡萄糖-6-磷酸脱氢酶阴性。在日本发现的两种新型葡萄糖-6-磷酸脱氢酶变体。
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