Further investigations of glucose-6-phosphate dehydrogenase variants in Flores Island, eastern Indonesia
Further investigations of glucose-6-phosphate dehydrogenase variants in Flores Island, eastern Indonesia
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DOI：
10.1007/s10038-006-0044-y
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发表时间：
2006-01-01
影响因子：
3.5
通讯作者：
Dachlan, Yoes P.
中科院分区：
文献类型：
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作者：
Kawamoto, Fumihiko;Matsuoka, Hiroyuki;Dachlan, Yoes P.
我们在印度尼西亚东努沙登加拉省弗洛雷斯岛东部进行了疟疾和葡萄糖-6-磷酸脱氢酶（GOD）缺乏症的实地调查。共检查了来自三个民族（锡卡、恩德和巴霍）的1，108名志愿者（男性642名，女性466名），检测到55名GOD缺陷个体（男性38名，女性17名）。其中，50个样本进行了分子分析，除了三个缺陷的情况下，在一个Bajo家庭。在锡卡人群中，G6 PD Kaiping（1388 G> A）是中国人群中两种常见的变异之一，意外地被发现为最主要的变异（11/22，50.0%），其次是G6 PD查塔姆（1003 G> A，36.4%）、G6 PD科英布拉（592 C> T，9.1%）和G6 PD Vanua Lava（383 T> C，4.5%）。锡卡人群中G6 PD开平型的发生频率可能是目前报道的非中国人群中最高的。在恩德人群中，GOD Vanua Lava（9/14，64.3%）最高，其次是G6 PD Kaiping（14.3%），G6 PD Chinese-5（1024 C> T，14.3%）和G6 PD查塔姆（7.1%）。在Bajo人群中，共分析了18例缺陷病例，在Maumere附近的Bajo村庄的一名7岁男孩中发现了外显子8的新突变（844 G> T），预测氨基酸变化为282 Asp > Tyr。这种新的11类（轻度型）变体也在他的母亲和妹妹中得到证实，并被命名为G6 PD Bajo Maumere。在相同的核苷酸844处的错义突变被称为G6 PD西雅图/洛迪/摩德纳/费拉拉11，但该突变是由G > C取代（282 Asp > His）引起的。在Bajo人群中，G6 PD维昂占（871 G> A，IVS 11 nt 93 T > C，1311 C> T）是东南亚大陆人群中最常见的变体，被发现是占主导地位的（11/18，61.1%），其次是G6 PD Vanua Lava和新变体（各16.7%），以及G6 PD科英布拉（5.6%）。这些结果有力地表明，巴霍人可能有不同的祖先，从那些锡卡和恩德，并可能更接近大陆东南亚人口。有趣的是，G6 PD Canton（1376 G> T），另一个在中国人中常见的变异，在弗洛雷斯人群中没有发现。
We conducted field surveys for malaria and glucose-6-phosphate dehydrogenase (GOD) deficiency in the eastern part of Flores Island, East Nusa Tenggara Province, Indonesia. A total of 1,108 volunteers (642 males and 466 females) belonging to three ethnic groups (Sikka, Ende and Bajo) were examined, and 55 GOD-deficient individuals (38 males and 17 females) were detected. Among them, 50 samples were analyzed molecularly, in addition to three deficient cases in a Bajo family. In the Sikka population, G6PD Kaiping (1388G > A), one of the two common variants in the Chinese population, was unexpectedly found as the most dominant variant (11/22, 50.0%), followed by G6PD Chatham (1003G > A, 36.4%), G6PD Coimbra (592C > T, 9.1%) and G6PD Vanua Lava (383T > C, 4.5%). Frequency of G6PD Kaiping in the Sikka might be the highest among non-Chinese populations reported so far. In the Ende population, GOD Vanua Lava (9/14, 64.3%) was the highest, followed by G6PD Kaiping (14.3%), G6PD Chinese-5 (1024C > T, 14.3%) and G6PD Chatham (7.1%). In the Bajo population, a total of 18 deficient cases were analyzed, and a novel mutation (844G > T) in exon 8 with a predicted amino acid change of 282 Asp > Tyr was found in a 7-year-old boy at a Bajo village near Maumere. This new Class 11 (mild type) variant was also confirmed in his mother and sister, and designated as G6PD Bajo Maumere. The missense mutation at the same nucleotide 844 has been known as G6PD Seattle/Lodi/Modena/Ferrara 11, but this mutation is caused by a G > C substitution (282 Asp > His). In the Bajo population, G6PD Viangchan (871G > A, IVS 11 nt93 T > C, 1311C > T), the most common variant in continental Southeast Asian populations, was found to be the dominant (11/18, 61.1%), followed by G6PD Vanua Lava and the new variant (each 16.7%), and G6PD Coimbra (5.6%). These results strongly suggest that the Bajo peoples may have different ancestors from those for Sikka and Ende, and may be much closer to continental Southeast Asian Populations. It is interesting that G6PD Canton (1376G > T), another common variant in Chinese, was not seen in the Flores population.