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葡萄糖-6-磷酸脱氢酶变异在印度尼西亚东帝汶中南部疟疾流行区的流行情况。

Prevalence of Glucose 6-Phosphate Dehydrogenase Variants in Malaria-Endemic Areas of South Central Timor, Eastern Indonesia.

机构信息

1Chulabhorn International College of Medicine (CICM), Thammasat University (Rangsit Campus), Patum Thani, Thailand.

2National Institute of Health Research and Development, Ministry of Health, Republic of Indonesia, Jakarta, Indonesia.

出版信息

Am J Trop Med Hyg. 2020 Aug;103(2):760-766. doi: 10.4269/ajtmh.19-0780. Epub 2020 Jun 25.

Abstract

Primaquine is an effective anti-hypnozoite drug for and However, it can trigger erythrocyte hemolysis in people with glucose 6-phosphate dehydrogenase (G6PD) deficiency. In a previous report from South Central Timor (SCT), Indonesia, we described the prevalence of Vanua Lava, Chatham, and Viangchan variants; in this study, other G6PD variants (Kaiping, Coimbra, Gaohe, Canton, and Mahidol) were subsequently analyzed. For clarity, all of these results are described together. The 381 DNA samples from the previous study during 2013-2014 were analyzed for G6PD variants by using PCR-restriction fragment length polymorphism (RFLP). The prevalence of G6PD deficiency in SCT was 6.3% (24/381 cases), including 4.2% (16/381 cases), 0.5% (2/381 cases), and 1.6% (6/381 cases) for Coimbra, Kaiping, and Vanua Lava variants, respectively. No other variants were found in this population. A significant association was found between ethnicity and the distribution of G6PD Kaiping in female subjects. A positive association was shown between G6PD activity and heterozygous females carrying Coimbra genotype, hemizygous males carrying Vanua Lava, infection in female subjects, and infection in male subjects. Further molecular analysis of heterozygous females, particularly in malaria-endemic areas, is needed for mapping distribution of G6PD deficiency status in Indonesia.

摘要

伯氨喹是一种有效的抗休眠期疟原虫药物,用于 和 。然而,它会在葡萄糖-6-磷酸脱氢酶(G6PD)缺乏的人群中引发红细胞溶血。在印度尼西亚中南帝汶(SCT)的先前报告中,我们描述了 Vanua Lava、Chatham 和 Viangchan 变异体的流行情况;在本研究中,随后分析了其他 G6PD 变异体(开平、科英布拉、高河、广州和玛希敦)。为了清晰起见,所有这些结果都一起描述。对 2013-2014 年期间之前研究中的 381 份 DNA 样本进行了 G6PD 变异体的 PCR-限制性片段长度多态性(RFLP)分析。SCT 的 G6PD 缺乏症患病率为 6.3%(381 例中有 24 例),包括科英布拉变异体占 4.2%(16 例)、开平变异体占 0.5%(2 例)和 Vanua Lava 变异体占 1.6%(6 例)。在该人群中未发现其他变异体。在女性受试者中,种族与 G6PD 开平变异体的分布之间存在显著关联。在女性携带 Coimbra 基因型的杂合子、携带 Vanua Lava 的半合子男性、女性 感染和男性 感染中,G6PD 活性与 Coimbra 基因型之间存在正相关。需要对携带 Coimbra 基因型的杂合子女性进行进一步的分子分析,特别是在疟疾流行地区,以绘制印度尼西亚 G6PD 缺乏症分布情况。

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