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首页> 外文期刊>Internal medicine journal >Prevalence and molecular study of G6PD deficiency in Malaysian Orang Asli
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Prevalence and molecular study of G6PD deficiency in Malaysian Orang Asli

机译：马来西亚红毛猩猩G6PD缺乏症的患病率和分子研究

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This study aims to define the prevalence and the molecular basis of G6PD deficiency in the Negrito tribe of the Malaysian Orang Asli. Four hundred and eighty seven consenting Negrito volunteers were screened for G6PD deficiency through the use of a fluorescent spot test. DNA from deficient individuals underwent PCR-RFLP analysis using thirteen recognized G6PD mutations. In the instances when the mutation could not be identified by PCR-RFLP, the entire coding region of the G6PD gene was subjected to DNA sequencing. In total, 9% (44/486) of the sample were found to be G6PD-deficient. However, only 25 samples were subjected to PCR-RFLP and DNA sequencing. Of these, three were found to carry Viangchan, one Coimbra and 16, a combination of C1311T in exon 11 and IVS11 T93C. Mutation(s) for the five remaining samples are unknown. The mean G6PD enzyme activity ranged 5.7IU/gHb in deficient individuals. Our results demonstrate that the frequency of G6PD deficiency is higher among the Negrito Orang Asli than other Malaysian races. The dual presence of C1311T and IVS11 T93C in 64% of the deficient individuals (16/44) could well be a result of genetic drift within this isolated group.
机译：本研究旨在确定马来西亚红毛猩猩Negrito部落中G6PD缺乏症的患病率和分子基础。通过使用荧光斑点测试，筛选了487位同意的Negrito志愿者是否存在G6PD缺乏症。来自缺陷个体的DNA使用13个公认的G6PD突变进行PCR-RFLP分析。在不能通过PCR-RFLP鉴定突变的情况下，对G6PD基因的整个编码区进行DNA测序。总共发现9％（44/486）的样本缺乏G6PD。但是，只有25个样品进行了PCR-RFLP和DNA测序。其中三人携带Viangchan，一个是科英布拉，另一个是16，这是外显子11中的C1311T和IVS11 T93C的组合。其余五个样本的突变未知。缺陷个体的平均G6PD酶活性为5.7IU / gHb。我们的结果表明，Negrito Orang Asli中G6PD缺乏症的发生率高于其他马来西亚种族。 C1311T和IVS11 T93C在64％的缺陷个体中双重存在（16/44），很可能是这个孤立群体中遗传漂移的结果。

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