机构：[1]Department of Cell Biology and Medical Genetics, Kunming Medical University, Kunming, Yunnan Province, China[2]The First Affiliated Hospital, Kunming Medical University, Kunming, Yunnan Province, China昆明医科大学附属第一医院[3]Department of Pathogen Biology and Immunology, Kunming Medical University, Kunming, Yunnan Province, China[4]Department of Entomology, The Pennsylvania State University, University Park, Pennsylvania, United States of America
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked hereditary disease that predisposes red blood cells to oxidative damage. G6PD deficiency is particularly prevalent in historically malaria-endemic areas. Use of primaquine for malaria treatment may result in severe hemolysis in G6PD deficient patients. In this study, we systematically evaluated the prevalence of G6PD deficiency in the Kachin (Jingpo) ethnic group along the China-Myanmar border and determined the underlying G6PD genotypes. We surveyed G6PD deficiency in 1770 adult individuals (671 males and 1099 females) of the Kachin ethnicity using a G6PD fluorescent spot test. The overall prevalence of G6PD deficiency in the study population was 29.6% (523/1770), among which 27.9% and 30.6% were males and females, respectively. From these G6PD deficient samples, 198 unrelated individuals (147 females and 51 males) were selected for genotyping at 11 known G6PD single nucleotide polymorphisms (SNPs) in Southeast Asia (ten in exons and one in intron 11) using a multiplex SNaPshot assay. Mutations with known association to a deficient phenotype were detected in 43.9% (87/198) of cases, intronic and synonymous mutations were detected alone in 34.8% (69/198) cases and no mutation were found in 21.2% (42/198) cases. Five non-synonymous mutations, Mahidol 487G>A, Kaiping 1388G>A, Canton 1376G>T, Chinese 4 392G>T, and Viangchan 871G>A were detected. Of the 87 cases with known deficient mutations, the Mahidol variant was the most common (89.7%; 78/87), followed by the Kaiping (8.0%; 7/87) and the Viangchan (2.2%; 2/87) variants. The Canton and Chinese 4 variants were found in 1.1% of these 87 cases. Among them, two females carried the Mahidol/Viangchan and Mahidol/Kaiping double mutations, respectively. Interestingly, the silent SNPs 1311C>T and IVS11nt93T>C both occurred in the same 95 subjects with frequencies at 56.4% and 23.5% in tested females and males, respectively (P<0.05). It is noteworthy that 24 subjects carrying the Mahidol mutation and two carrying the Kaiping mutation also carried the 1311C>T/IVS11nt93T>C SNPs. Further studies are needed to determine the enzyme levels of the G6PD deficient people and presence of additional G6PD mutations in the study population.
基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China [31260264]; High Talents introduction project of Yunnan province [2013HA026]; National Institute of Allergy and Infectious Diseases, National Institutes of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Allergy & Infectious Diseases (NIAID) [NIH U19AI089672]
第一作者机构：[1]Department of Cell Biology and Medical Genetics, Kunming Medical University, Kunming, Yunnan Province, China
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推荐引用方式(GB/T 7714)：
Li Qing,Yang Fang,Liu Rong,et al.Prevalence and Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency at the China-Myanmar Border[J].PLOS ONE.2015,10(7):doi:10.1371/journal.pone.0134593.
APA：
Li, Qing,Yang, Fang,Liu, Rong,Luo, Lan,Yang, Yuling...&He, Yongshu.(2015).Prevalence and Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency at the China-Myanmar Border.PLOS ONE,10,(7)
MLA：
Li, Qing,et al."Prevalence and Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency at the China-Myanmar Border".PLOS ONE 10..7(2015)
