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巴布亚新几内亚的葡萄糖-6-磷酸脱氢酶缺乏症。13种新变体的描述。

Glucose-6-phosphate dehydrogenase deficiency in Papua New Guinea. The description of 13 new variants.

作者信息

Chockkalingam K, Board P G, Nurse G T

出版信息

Hum Genet. 1982;60(2):189-92. doi: 10.1007/BF00569710.

DOI:10.1007/BF00569710
PMID:7076260
Abstract

A total of 362 males from various regions of Papua New Guinea were screened for red cell glucose-6-phosphate dehydrogenase (G6PD) activity. Twenty-six G6PD deficient individuals were identified. Biochemical characterization of G6PD purified from these subjects has revealed 13 new variants and several copies of previously described forms of G6PD. This study illustrates the extreme heterogeneity of G6PD deficiency among the people of Papua New Guinea.

摘要

对来自巴布亚新几内亚不同地区的362名男性进行了红细胞葡萄糖-6-磷酸脱氢酶(G6PD)活性筛查。共鉴定出26名G6PD缺乏个体。对从这些受试者中纯化的G6PD进行生化特征分析,发现了13种新变体以及几个先前描述的G6PD形式的样本。这项研究表明巴布亚新几内亚人群中G6PD缺乏存在极大的异质性。

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本文引用的文献

1
Further evidence for heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Papua New Guinea.巴布亚新几内亚葡萄糖-6-磷酸脱氢酶缺乏症异质性的进一步证据。
Hum Genet. 1980;56(2):209-12. doi: 10.1007/BF00295696.
2
Biochemical variants of glucose-6-phosphate dehydrogenase giving rise to congenital nonspherocytic hemolytic disease.导致先天性非球形红细胞溶血性贫血的葡萄糖-6-磷酸脱氢酶的生化变异体。
Blood. 1968 Feb;31(2):131-50.
3
Heterogeneous distribution of glucose-6-phosphate dehydrogenase variants with enzyme deficiency in the Markham Valley Area of New Guinea.
Extremely high frequencies of alpha-globin gene deletion in Madang and on Kar Kar Island, Papua New Guinea.
巴布亚新几内亚马当及卡尔卡尔岛α-珠蛋白基因缺失的极高频率
Am J Hum Genet. 1985 Jul;37(4):778-84.
4
Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific).多种葡萄糖-6-磷酸脱氢酶缺乏变体与瓦努阿图群岛(西南太平洋)的疟疾流行情况相关。
Am J Hum Genet. 1995 Jan;56(1):294-301.
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Glucose-6-phosphate dehydrogenase variants and their frequency in Guangdong, China.葡萄糖-6-磷酸脱氢酶变异体及其在中国广东的频率。
Hum Genet. 1988 Dec;80(4):385-8. doi: 10.1007/BF00273657.
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Special modifications of the fluorescent screening method for glucose-6-phosphate dehydrogenase deficiency.葡萄糖-6-磷酸脱氢酶缺乏症荧光筛查方法的特殊改进。
Blood. 1968 Nov;32(5):816-8.
5
Language boundaries and biological differentiation of Bougainville: multivariate analysis of variance.布干维尔的语言界限与生物分化:多变量方差分析
Proc Natl Acad Sci U S A. 1975 Jun;72(6):2247-50. doi: 10.1073/pnas.72.6.2247.
6
Human glucose-6-phosphate dehydrogenase variants: a supplementary tabulation.
Ann Hum Genet. 1978 Jan;41(3):347-55. doi: 10.1111/j.1469-1809.1978.tb01902.x.