在印度尼西亚弗洛雷斯岛的11名葡萄糖-6-磷酸脱氢酶（G6PD）缺乏者中发现了5种不同的葡萄糖-6-磷酸脱氢酶变体。 （注：原文中“[correction phosphate]”可能有误，正常应该是“glucose-6-phosphate dehydrogenase”，即葡萄糖-6-磷酸脱氢酶 ）
Five different glucose-6-phophate [correction phosphate]dehydrogenase (G6PD) variants found among 11 G6PD-deficient persons in Flores Island, Indonesia.
作者信息
Matsuoka Hiroyuki, Arai Meiji, Yoshida Shigeto, Tantular Indah Setyawati, Pusarawati Suhintam, Kerong Henyo, Kawamoto Fumihiko
机构信息
Department of Medical Zoology, Jichi Medical School, 3311-1 Yakushiji, Minami-kawachi, Tochigi 329-0498, Japan.
Tropical Disease Center and Department of Parasitology, Faculty of Medicine, Airlangga University, Surabaya, Indonesia.
出版信息
J Hum Genet. 2003;48(10):541-544. doi: 10.1007/s10038-003-0073-8. Epub 2003 Sep 23.
We conducted a survey for malaria diagnosis and treatment in four primary schools in Flores Island, one of the Indonesian Islands with an area of 17000 km(2) and a population of 1.8 million. Of those examined, 24.4% were diagnosed as having malaria (90/363) and administered medicine immediately. A glucose-6-phosphate dehydrogenase (G6PD) test was performed at the same time, and 16 persons (4.4%) were diagnosed as G6PD deficient. Eleven persons consented to analysis of the G6PD genome. We analyzed these subjects and found one case of G6PD Vanua Lava (383T>C), five cases of G6PD Coimbra (592C>T), one case of G6PD Viangchan (871G>A), one case of G6PD Chatham (1003G>A), and three cases of G6PD Kaiping (1388G>A). These were unexpected findings because five different G6PD variants were found in such a small population. This suggests that people of Flores Island are derived from various ancestries.
我们在印度尼西亚弗洛勒斯岛的四所小学开展了疟疾诊断与治疗调查。弗洛勒斯岛是印度尼西亚诸岛之一，面积17000平方公里，人口180万。在接受检查的人群中，24.4%（90/363）被诊断患有疟疾并立即接受了药物治疗。同时进行了葡萄糖-6-磷酸脱氢酶（G6PD）检测，16人（4.4%）被诊断为G6PD缺乏。11人同意对G6PD基因组进行分析。我们对这些受试者进行分析，发现1例G6PD瓦努阿洛瓦型（383T>C）、5例G6PD科英布拉型（592C>T）、1例G6PD万象型（871G>A）、1例G6PD查塔姆型（1003G>A）和3例G6PD开平型（1388G>A）。这些是意外发现，因为在如此小的人群中发现了五种不同的G6PD变体。这表明弗洛勒斯岛的居民来自不同的祖先。
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