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首页> 外文期刊>Human Heredity >Prevalence and Molecular Study of G6PD Deficiency in the Dai and Jingpo Ethnic Groups in the Dehong Prefecture of the Yunnan Province
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Prevalence and Molecular Study of G6PD Deficiency in the Dai and Jingpo Ethnic Groups in the Dehong Prefecture of the Yunnan Province

机译：云南省德宏县傣族和景颇族缺乏的患病率和分子研究

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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.
机译：目的：估计G6PD缺乏的患病率和突变类型，评价云南省德洪县傣族和景颇族种族群体与红细胞群体的关系。方法：使用修饰的G6PD / 6PGD比测定，在DAI（1,530个个体）和Jingpo（372个个体）群中筛选G6PD缺乏。使用Sysmex XE2100全自动血液分析仪分析红细胞性状。进行G6PD基因分型分析的PCR直接测序，然后用HaploView 4.2软件构建靶SNP的连锁不平衡嵌段。结果：傣族（8.63％）比Jingpo族群（5.91％）更高的G6PD缺乏率较高。下降令的主要突变为137852314g> A，RS72554664 G> A，RS72554665 G> T，RS137852341g> t。 RS137852314g>血红蛋白浓度明显低于正常组（p = 0.021）。与正常组相比，RS137852341g> T组的平均碎粒体积和平均碎石血红蛋白在RS137852341G> T组中基本上更高（P = 0.049，P = 0.042）。为来自DAI样品的G6PD缺陷组构建了13个SNP的连锁不平衡块。结论：傣族和景颇族民族具有独特的发病率和G6PD缺乏的基因频率，G6PD缺乏的基因型与红细胞表型相关。

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