OBJECTIVES To estimate the prevalence and mutation types of G6PD deficiency and evaluate the relationship between G6PD genotypes and erythrocyte phenotypes in the Dai and Jingpo ethnic groups in the Dehong prefecture of the Yunnan province, China. METHODS G6PD deficiency was screened in Dai (1,530 individuals) and Jingpo (372 individuals) populations using a modified G6PD/6PGD ratio assay. Red blood cell traits were analyzed using the Sysmex XE2100 fully automated blood analyzer. PCR-direct sequencing for G6PD genotyping analysis was performed, and then the linkage disequilibrium blocks of the target SNPs were constructed with Haploview 4.2 software. RESULTS The prevalence of G6PD deficiency was higher in the Dai ethnic group (8.63%) than in the Jingpo ethnic group (5.91%). The major mutations in descending order were rs137852314 G>A, rs72554664 G>A, rs72554665 G>T, and rs137852341 G>T. Hemoglobin concentration was significantly lower in the rs137852314 G>A group than in the normal group (p = 0.021). Mean corpuscular volume and mean corpuscular hemoglobin were substantially higher in the rs137852341 G>T group compared to the normal group (p = 0.049, p = 0.042). A linkage disequilibrium block of 13 SNPs was constructed for the G6PD deficiency group from the Dai sample. CONCLUSIONS The Dai and Jingpo ethnic groups have distinctive incidence rates and gene frequencies of G6PD deficiency, and the genotypes of G6PD deficiency are associated with erythrocyte phenotypes.

中文翻译：

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云南德宏hong族和景颇族G6PD缺乏症的流行和分子研究。

目的估算云南省德宏州Dai族和景颇族的G6PD缺乏症的患病率和突变类型，并评估其G6PD基因型与红细胞表型之间的关系。方法采用改良的G6PD / 6PGD比值分析法筛选了Dai族（1,530例）和景颇族（372例）人群的G6PD缺乏症。使用Sysmex XE2100全自动血液分析仪分析红细胞特征。进行G6PD基因分型分析的PCR直接测序，然后使用Haploview 4.2软件构建目标SNP的连锁不平衡区。结果in族人群中G6PD缺乏症的患病率（8.63％）高于景颇族人群（5.91％）。降序排列的主要突变为rs137852314 G> A，rs72554664 G> A，rs72554665 G> T和rs137852341 G> T。rs137852314 G> A组的血红蛋白浓度显着低于正常组（p = 0.021）。rs137852341 G> T组的平均红细胞体积和平均红细胞血红蛋白比正常组高得多（p = 0.049，p = 0.042）。从Dai样本中为G6PD缺陷组构建了一个13个SNP的连锁不平衡嵌段。结论The族和景颇族具有明显的G6PD缺乏症发病率和基因频率，G6PD缺乏症的基因型与红细胞表型有关。rs137852341 G> T组的平均红细胞体积和平均红细胞血红蛋白比正常组高得多（p = 0.049，p = 0.042）。从Dai样本中为G6PD缺陷组构建了一个13个SNP的连锁不平衡嵌段。结论The族和景颇族具有明显的G6PD缺乏症发病率和基因频率，G6PD缺乏症的基因型与红细胞表型有关。rs137852341 G> T组的平均红细胞体积和平均红细胞血红蛋白比正常组高得多（p = 0.049，p = 0.042）。从Dai样本中为G6PD缺陷组构建了一个13个SNP的连锁不平衡嵌段。结论The族和景颇族具有明显的G6PD缺乏症发病率和基因频率，G6PD缺乏症的基因型与红细胞表型有关。