Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia
Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia
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DOI：
10.1007/s004390100527
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发表时间：
2001-06-01
期刊：
影响因子：
5.3
通讯作者：
Ishii, A
中科院分区：
文献类型：
--
作者：
Iwai, K;Hirono, A;Ishii, A
葡萄糖 - 6 - 磷酸脱氢酶（G6PD）缺乏症是一种在热带地区高发的异质性酶异常疾病。我们对G6PD变异体进行了人群筛查和分子研究，以明确其在东南亚的分布和特征。采用一步筛查法对来自缅甸的16个民族、老挝的佬族以及印度尼西亚的安汶人的共4317名参与者（2019名男性，2298名女性）进行了筛查。G6PD缺乏男性的患病率从0%（阿卡族）到10.8%（掸族）不等。这些G6PD缺乏个体以及在印度尼西亚和马来西亚医院确诊的12名G6PD缺乏患者，通过基于聚合酶链反应的单链构象多态性分析和直接测序相结合的方法进行了分子分析。在来自14个民族的63名G6PD缺乏个体（50名半合子、11名杂合子和2名纯合子）中鉴定出10种不同的错义突变。在一名印度尼西亚华裔中发现的一种错义突变（1291G→A），即G6PD泗水型，此前未见报道。487G→A（G6PD玛希隆型）突变在缅甸广泛存在，383T→C（G6PD瓦努阿图拉瓦型）在安汶人中特异性发现，871G→A（G6PD万象型）主要在佬族中观察到，592C→T（G6PD科英布拉型）在马来西亚原住民（奥朗阿斯利人）中发现。其他5种突变，95A→G（G6PD高河型）、1003G→A（G6PD查塔姆型）、1360C→T（G6PD联合型）、1376G→T（G6PD广州型）和1388G→A（G6PD开平型）的鉴定结果大多与先前报道的分布相符。
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a heterogeneous enzyme abnormality with high frequency in tropical areas. We performed population screening and molecular studies of G6PD variants to clarify their distribution and features in Southeast Asia. A total of 4317 participants (2019 males, 2298 females) from 16 ethnic groups in Myanmar, Lao in Laos, and Amboinese in Indonesia were screened with a single-step screening method. The prevalence of G6PD-deficient males ranged from 0% (the Akha) to 10.8% (the Shan). These G6PD-deficient individuals and 12 G6PD-deficient patients who had been diagnosed at hospitals in Indonesia and Malaysia were subjected to molecular analysis by a combination of polymerase-chain-reaction-based single-strand conformation polymorphism analysis and direct sequencing. Ten different missense mutations were identified in 63 G6PD-deficient individuals (50 hemizygotes, I I heterozygotes, and 2 homozygotes) from 14 ethnic groups. One missense mutation (1291 G -->A) found in an Indonesian Chinese, viz., G6PD Surabaya, was previously unknown. The 487 G -->A (G6PD Mahidol) mutation was widely seen in Myanmar, 383 T -->C (G6PD Vanua Lava) was specifically found among Amboinese, 871 G -->A (G6PD Viangchan) was observed mainly in Lao. and 592 C -->T (G6PD Coimbra) was found in Malaysian aborigines (Orang Asli). The other five mutations, 95 A -->G (G6PD Gaohe), 1003 G -->A (G6PD Chatham), 1360 C -->T (G6PD Union), 1376 G -->T (G6PD Canton), and 1388 G -->A (G6PD Kaiping) were identified mostly in accordance with distributions reported previously.