Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays.
Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays.
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DOI：
10.1002/humu.9103
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发表时间：
2003-01-01
期刊：
影响因子：
3.9
通讯作者：
Hamidah, N H
中科院分区：
文献类型：
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作者：
Ainoon, O;Yu, Y H;Hamidah, N H
我们对马来西亚国立大学医院诊断为G6PD缺乏症的86名马来新生儿的脐带血样本进行了DNA分析，采用快速pcr技术、单链构象多态性分析（SSCP）和DNA测序相结合的方法。871G>A （G6PD Viangchan）为37.2%,nt 563 C>T （G6PD Mediterranean）为26.7%,487G>A （G6PD Mahidol）为15.1%，其次是1376G>T （G6PD Canton）为4.7%,383T>C （G6PD Vanua Lava）为3.5%,592C>T （G6PD Coimbra）为3.5%,1388G>A （G6PD开平）为2.3%,1360C>T （G6PD Union）为2.3%,1003G>A （G6PD Chatham）为1.2%,131C>G （G6PD Orissa）为1.2%,1361G>A （G6PD Andalus）为1.2%。86例g6pd缺陷新生儿中有71例（82.6%）患有新生儿黄疸。71例黄疸新生儿中有57例（80%）需要光疗，只有1例新生儿进展为严重高胆红素血症（血清胆红素>340微mol/l）需要换血。新生儿黄疸的发生率、平均血清胆红素水平、平均血清胆红素峰值年龄、需要光疗的婴儿百分比和平均光疗天数在三种常见变异之间无显著差异。综上所述，马来人G6PD缺乏症的分子缺陷是异质性的，G6PD Viangchan、Mahidol和Mediterranean至少占80%。我们的研究结果支持了G6PD Viangchan和Mahidol是常见的东南亚变体的观察。他们在马来人中的存在表明他们与柬埔寨人、老挝人和泰国人有着共同的祖先起源。我们的发现与其他关于地中海变体在该地区存在的初步数据一起，提供了阿拉伯人对马来群岛有强烈影响的证据。
We performed DNA analysis using cord blood samples on 86 male Malay neonates diagnosed as G6PD deficiency in the National University of Malaysia Hospital by a combination of rapid PCR-based techniques, single-stranded conformation polymorphism analysis (SSCP) and DNA sequencing. We found 37.2% were 871G>A (G6PD Viangchan), 26.7% were nt 563 C>T (G6PD Mediterranean) and 15.1% were 487G>A (G6PD Mahidol) followed by 4.7% 1376G>T (G6PD Canton), 3.5% 383T>C (G6PD Vanua Lava), 3.5% 592C>T (G6PD Coimbra), 2.3% 1388G>A (G6PD Kaiping), 2.3% 1360C>T (G6PD Union), 2.3% 1003G>A (G6PD Chatham), 1.2% 131C>G (G6PD Orissa) and 1.2% 1361G>A (G6PD Andalus). Seventy-one (82.6%) of the 86 G6PD-deficient neonates had neonatal jaundice. Fifty seven (80%) of the 71 neonates with jaundice required phototherapy with only one neonate progressing to severe hyperbilirubinemia (serum bilirubin >340 micromol/l) requiring exchange transfusion. There was no significant difference in the incidence of neonatal jaundice, mean serum bilirubin level, mean age for peak serum bilirubin, percentage of babies requiring phototherapy and mean number of days of phototherapy between the three common variants. In conclusion, the molecular defects of Malay G6PD deficiency is heterogeneous and G6PD Viangchan, Mahidol and Mediterranean account for at least 80% of the cases. Our findings support the observation that G6PD Viangchan and Mahidol are common Southeast Asian variants. Their presence in the Malays suggests a common ancestral origin with the Cambodians, Laotians and Thais. Our findings together with other preliminary data on the presence of the Mediterranean variant in this region provide evidence of strong Arab influence in the Malay Archipelago.