G6PD Canton a common deficient variant in South East Asia caused by a 459 Arg----Leu mutation.
作者信息
Stevens D J, Wanachiwanawin W, Mason P J, Vulliamy T J, Luzzatto L
机构信息
Department of Haematology, RPMS, Hammersmith Hospital, London, UK.
出版信息
Nucleic Acids Res. 1990 Dec 11;18(23):7190. doi: 10.1093/nar/18.23.7190.
Abstract
摘要
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1
G6PD Canton a common deficient variant in South East Asia caused by a 459 Arg----Leu mutation.G6PD Canton是东南亚一种常见的缺陷型变体，由459位精氨酸突变为亮氨酸引起。
Nucleic Acids Res. 1990 Dec 11;18(23):7190. doi: 10.1093/nar/18.23.7190.
2
G6PD mahidol, a common deficient variant in South East Asia is caused by a (163)glycine----serine mutation.G6PD 马希多尔型，一种在东南亚常见的缺陷型变体，由（163）甘氨酸至丝氨酸突变引起。
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G6PD Kalyan and G6PD Kerala; two deficient variants in India caused by the same 317 Glu-->Lys mutation.葡萄糖-6-磷酸脱氢酶卡利安型和葡萄糖-6-磷酸脱氢酶喀拉拉邦型；印度的两种缺陷型变体，由相同的317位谷氨酸突变为赖氨酸的突变引起。
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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。
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G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism.G6PD奥雷斯：一种导致轻度G6PD缺乏的新突变（48异亮氨酸→苏氨酸）与蚕豆病相关。
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Two commonly occurring nucleotide base substitutions in Chinese G6PD variants.中国葡萄糖-6-磷酸脱氢酶（G6PD）变体中两种常见的核苷酸碱基替换。
Biochem Biophys Res Commun. 1991 Oct 31;180(2):988-93. doi: 10.1016/s0006-291x(05)81163-5.
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Detection of point mutations in exon 2 of the G6PD gene in Chinese G6PD variants.中国葡萄糖-6-磷酸脱氢酶（G6PD）变异型中G6PD基因第2外显子点突变的检测
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The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD Union (454 Arg-->Cys) has a worldwide distribution possibly due to recurrent mutation.葡萄糖-6-磷酸脱氢酶（G6PD）缺陷变体G6PD联合型（454位精氨酸→半胱氨酸）在全球范围内均有分布，可能是由于反复发生突变所致。
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A to G substitution identified in exon 2 of the G6PD gene among G6PD deficient Chinese.在G6PD缺乏的中国人中，在G6PD基因外显子2中鉴定出A到G的替换。
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Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in the south of Thailand and identification of a novel variant (G6PD Songklanagarind).泰国南部葡萄糖-6-磷酸脱氢酶（G6PD）变体的分子异质性及一种新型变体（G6PD宋卡那加林）的鉴定
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PharmGKB summary: very important pharmacogene information for G6PD.药物基因组知识库总结：关于葡萄糖-6-磷酸脱氢酶（G6PD）的非常重要的药物基因信息。
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Glucose-6-phosphate dehydrogenase deficiency in India.印度的葡萄糖-6-磷酸脱氢酶缺乏症
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Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Malays in Malaysia.马来西亚马来人中葡萄糖-6-磷酸脱氢酶缺乏症的分子异质性
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Frequency of glucose-6-phosphate dehydrogenase (G6PD) mutations in Chinese, Filipinos, and Laotians from Hawaii.夏威夷华裔、菲律宾裔和老挝裔人群中葡萄糖-6-磷酸脱氢酶（G6PD）突变的频率
Hum Genet. 1993 Nov;92(5):470-6. doi: 10.1007/BF00216453.
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A to G substitution identified in exon 2 of the G6PD gene among G6PD deficient Chinese.在G6PD缺乏的中国人中，在G6PD基因外显子2中鉴定出A到G的替换。
Nucleic Acids Res. 1991 Nov 11;19(21):6056. doi: 10.1093/nar/19.21.6056.
9
Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia.与遗传性非球形红细胞溶血性贫血相关的日本葡萄糖-6-磷酸脱氢酶变异体（G6PD东京）的分子异常。
Hum Genet. 1992 Jan;88(3):347-8. doi: 10.1007/BF00197272.
本文引用的文献
1
A Chinese variant of glucose-6-phosphate dehydrogenase.葡萄糖-6-磷酸脱氢酶的一种中国变体。
J Lab Clin Med. 1966 Mar;67(3):374-85.
2
Nucleotide sequence of the Drosophila glucose-6-phosphate dehydrogenase gene and comparison with the homologous human gene.果蝇葡萄糖-6-磷酸脱氢酶基因的核苷酸序列及其与同源人类基因的比较。
Gene. 1988 Mar 31;63(2):261-75. doi: 10.1016/0378-1119(88)90530-6.
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