Prevalence and Molecular Study of G6PD Deficiency in the Dai and Jingpo Ethnic Groups in the Dehong Prefecture of the Yunnan Province

Abstract

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.

Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population

“…The G6PD Jammu mutation is an 871G > A mutation identical to the G6PD Viangchan mutation but different from the polymorphism at nucleotide 1311 (nt1311C) detected in this study, whereas the previous report found only G6PD Viangchan in the Laotian population [21]. The polymorphisms nt1311C and IVS11 nt93T were randomly detected in this group, different from those reported in other Lao populations [21], the Thai population (nt1311T) [18] and the Chinese population (nt1311T) [31]. These data imply that the Mon-Khmer or Lao Theung and Lao Loum groups have different origins.…”

Molecular Characterization of G6PD Mutations Reveals the High Frequency of G6PD Aures in the Mon-Khmer Population

“…The G6PD Jammu mutation is an 871G > A mutation identical to the G6PD Viangchan mutation but different from the polymorphism at nucleotide 1311 (nt1311C) detected in this study, whereas the previous report found only G6PD Viangchan in the Laotian population (30). The polymorphisms nt1311C and IVS11 nt93T were randomly detected in this group, different from those reported in other Lao populations (30), the Thai population (nt1311T) (18) and the Chinese population (nt1311T) (32). These data imply that the Mon-Khmer or Lao Theung and Lao Loum groups have different origins.…”

Epidemiology, evolutionary origin, and malaria‐induced positive selection effects of G6PD‐deficient alleles in Chinese populations

“…In this systemic population-based study on G6PD deficiency in China, we present the frequencies of G6PD deficiency and the distribution of G6PD gene variants in 12 ethnic populations, illustrating the epidemiological features, evolutionary origin and malaria-induced positive selection effects of G6PD-deficient alleles in China. At present, more than 36 kinds of G6PD deficiency variants have been identified in various ethnic groups of East Asia and Southeast Asia, and at least 31 variants have been identified in Chinese populations (He et al, 2018). For the 13 G6PD pathogenic variants analysed in our study, only NM_001042351.3:c.1311T>C did not result in an amino acid change.…”