title: Molecular epidemiological investigation of G6PD deficiency by a gene chip among Chinese Hakka of southern Jiangxi province.
abstract: In southern China, glucose-6-phosphate dehydrogenase (G6PD) deficiency is a significant health problem, and the incidence ranged from 0.5 to 4.08% in different Chinese population. The aims of this study are to investigate the molecular epidemiological characteristic of the G6PD gene among Chinese Hakka in southern Jiangxi province. 2331 unrelated subjects were screened for G6PD deficiency by a fluorescent test. DNA from deficient individuals was analyzed by a gene chip analysis for thirteen common Chinese G6PD mutations. In total, 3.60% (82/2331; 95% CI 2.77-4.27) of the sample were found to be G6PD-deficient. Eight mutations were found from 80 samples. However, mutation(s) for the two remaining samples were unknown. The most common mutations were G6PD Canton (1376 G>T) and G6PD Kaiping (1388 G>A), and the following mutations were 1311 polymorphism (1311 C>T), G6PD Gaohe (95 A>G), G6PD Chinese-5 (1024 C>T), G6PD Maewo (1360 C>T), Shunde (592 C>T), G6PD Viangchan (871 G>A) and Chinese-3 (493 A>G). This is the first report of G6PD deficiency among Chinese Hakka population in Jiangxi province.
authors.affiliation: Department of Laboratory Medicine, First Affiliated Hospital of Gannan Medical University Ganzhou 341000, Jiangxi Province, P. R. China.
authors.forename: Rong
authors.initials: R
authors.lastname: Hu
authors.affiliation: Laboratory Medical Center, Chaozhou Central Hospital Affiliated to Southern Medical University Chaozhou 521021, Guangdong Province, P. R. China.
authors.forename: Min
authors.initials: M
authors.lastname: Lin
authors.affiliation: Department of Ultrasonography, First Affiliated Hospital of Gannan Medical University Ganzhou 341000, Jiangxi Province, P. R. China.
authors.forename: Jun
authors.initials: J
authors.lastname: Ye
authors.affiliation: Department of Traditional Chinese Medicine, First Affiliated Hospital of Gannan Medical University Ganzhou 341000, Jiangxi Province, P. R. China.
authors.forename: Bao-Ping
authors.initials: BP
authors.lastname: Zheng
authors.affiliation: Department of Laboratory Medicine, First Affiliated Hospital of Gannan Medical University Ganzhou 341000, Jiangxi Province, P. R. China.
authors.forename: Li-Xia
authors.initials: LX
authors.lastname: Jiang
authors.affiliation: Chaozhou Hybribio Limited Corporation Chaozhou 521021, Guangdong Province, P. R. China.
authors.forename: Juan-Juan
authors.initials: JJ
authors.lastname: Zhu
authors.affiliation: Department of Laboratory Medicine, First Affiliated Hospital of Gannan Medical University Ganzhou 341000, Jiangxi Province, P. R. China.
authors.forename: Xiao-Hong
authors.initials: XH
authors.lastname: Chen
authors.affiliation: Department of Laboratory Medicine, First Affiliated Hospital of Gannan Medical University Ganzhou 341000, Jiangxi Province, P. R. China.
authors.forename: Mi
authors.initials: M
authors.lastname: Lai
authors.affiliation: Department of Laboratory Medicine, First Affiliated Hospital of Gannan Medical University Ganzhou 341000, Jiangxi Province, P. R. China.
authors.forename: Tian-Yu
authors.initials: TY
authors.lastname: Zhong
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D016133:Polymerase Chain Reaction
keywords: Chinese Hakka; G6PD deficiency; gene chip; gene mutation
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