Incidence and mutation analysis of glucose-6-phosphate dehydrogenase deficiency in eastern Indonesian populations.
Incidence and mutation analysis of glucose-6-phosphate dehydrogenase deficiency in eastern Indonesian populations.
复制标题
印度尼西亚东部人群葡萄糖-6-磷酸脱氢酶缺乏症的发病率和突变分析。
DOI：
10.18926/amo/41322
复制
发表时间：
2010
影响因子：
0.5
通讯作者：
F. Kawamoto
中科院分区：
文献类型：
--
作者：
I. Tantular;H. Matsuoka;Yuichi Kasahara;S. Pusarawati;T. Kanbe;J. Tuda;Y. Kido;Y. P. Dachlan;F. Kawamoto
我们在印度尼西亚东部岛屿进行了葡萄糖-6-磷酸葡萄糖（G6 PD）缺乏症的实地调查，并对G6 PD变体进行了分子分析。在弗洛雷斯和帕卢群岛的5个民族（Manggarai、Bajawa、Nage-Keo、Larantuka和Palue）中，G6 PD缺乏症的发病率低于另一个土著民族锡卡或非土著民族Riung。G6 PD变异的分子分析表明，锡卡的19例G6 PD变异的频率分布与我们以前的研究相似，而Riung的8例G6 PD变异的频率分布不同。另一方面，在对西帝汶、松巴、苏拉威西、穆纳和邦加岛上的另外8个族裔群体（帝汶人、松巴人、萨武内人、肯达人、布顿人、穆纳人、米纳人和桑吉尔人）进行的实地调查中，共发现49例缺陷病例。这49例中的39例具有美拉尼西亚起源的G6 PD Vanua Lava（383 T>C）。在我们以前的研究中，在印度尼西亚东部其他岛屿发现了许多G6 PD Vanua Lava病例。综上所述，这些发现可能表明，G6 PD Vanua Lava是印尼东部人群中最常见的变异，除了锡卡。
We conducted a field survey of glucose-6-phosphate dehydrogenese (G6PD) deficiency in the eastern Indonesian islands, and analyzed G6PD variants molecularly. The incidence of G6PD deficiency in 5 ethnic groups (Manggarai, Bajawa, Nage-Keo, Larantuka, and Palue) on the Flores and Palue Islands was lower than that of another native group, Sikka, or a nonnative group, Riung. Molecular analysis of G6PD variants indicated that 19 cases in Sikka had a frequency distribution of G6PD variants similar to those in our previous studies, while 8 cases in Riung had a different frequency distribution of G6PD variants. On the other hand, from field surveys in another 8 ethnic groups (Timorese, Sumbanese, Savunese, Kendari, Buton, Muna, Minahasa, and Sangirese) on the islands of West Timor, Sumba, Sulawesi, Muna and Bangka, a total of 49 deficient cases were detected. Thirty-nine of these 49 cases had G6PD Vanua Lava (383T＞C) of Melanesian origin. In our previous studies, many cases of G6PD Vanua Lava were found on other eastern Indonesian islands. Taken together, these findings may indicate that G6PD Vanua Lava is the most common variant in eastern Indonesian populations, except for Sikka.
影响因子：
2.3
作者：
Beutler, E;Vulliamy, T;Luzzatto, L
通讯作者：
Luzzatto, L