RESUMO
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.
