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泰国北部佬族人群中葡萄糖-6-磷酸脱氢酶缺乏症的流行情况及分子特征。

Prevalence and molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Lue ethnic group of northern Thailand.

机构信息

Department of Biology, Faculty of Science, Chiang Mai University, Chiang Mai, Thailand.

Graduate School, Chiang Mai University, Chiang Mai, Thailand.

出版信息

Sci Rep. 2021 Feb 3;11(1):2956. doi: 10.1038/s41598-021-82477-w.

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common enzyme disorders. Prevalence and variant distribution of G6PD deficiency can vary in different regions and among differing ethnic groups. To reveal the G6PD frequency and molecular characterization among the Lue ethnic group of northern Thailand, blood samples of 296 unrelated individuals collecting from 6 Lue villages were analyzed. The observed G6PD enzyme activity ranged from 0.11 to 20.60 U/g Hb. Overall, 13.51% (40/296) of the individuals were identified as having G6PD deficiency status. The prevalence in males was 14.28% (20/140), while that of females was 12.82% (20/156). The most common G6PD variants in the Lue were the Kaiping 1388G > A (5.40%) and Canton 1376G > T (6.42%) types. Observed prevalence and variant types of the G6PD gene in the Lue population are similar to that of the Tai-Kadai speaking ethnic groups in southern China, which is consistent with their historically close line of ancestry. However, the founder effect that occurred during the Lue's transboundary migration from China to Thailand showed its impact upon different patterns of G6PD distribution among each Lue village.

摘要

葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症是最常见的酶缺乏症之一。G6PD 缺乏症的患病率和变异分布在不同地区和不同种族群体中可能有所不同。为了揭示泰国北部 Lue 族人群中的 G6PD 频率和分子特征,对来自 6 个 Lue 村庄的 296 名无关个体的血液样本进行了分析。观察到的 G6PD 酶活性范围为 0.11 至 20.60 U/g Hb。总体而言,13.51%(40/296)的个体被确定为具有 G6PD 缺乏状态。男性的患病率为 14.28%(20/140),而女性的患病率为 12.82%(20/156)。Lue 族中最常见的 G6PD 变异是开平 1388G>A(5.40%)和广州 1376G>T(6.42%)类型。在 Lue 人群中观察到的 G6PD 基因的患病率和变异类型与中国南方泰卡岱语族相似,这与他们历史上密切的祖先关系相一致。然而,Lue 族从中国跨境迁移到泰国时发生的奠基者效应,对每个 Lue 村庄的 G6PD 分布模式产生了影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be25/7858617/022dd43fca3c/41598_2021_82477_Fig1_HTML.jpg

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