title: G6PD genotype and its associated enzymatic activity in a Chinese population.
abstract: Knowledge of the G6PD genotype and its associated enzyme activity is significant for population genetics, diagnosis of disease, and management of patients. We tested 2,872 unrelated subjects from a Hakka population in China for G6PD activity by the WHO standard method and for genotype by DHPLC and DNA sequencing. Among female heterozygotes, 78.5% had relatively normal enzyme activity. The phenotype frequency of G6PD deficiency is 0.028, and the causal allele frequency is 0.060 in females. The accuracy, sensitivity, and specificity of DHPLC are more than 98% for detecting G6PD-deficient hemizygotes, heterozygotes, and homozygotes. Measuring enzyme activity alone is not sufficient for the diagnosis of heterozygotes. A combination of enzyme activity and DNA analysis should be used.
authors.affiliation: Department of Medical Genetics, Sun Yat-sen Medical School and Key Laboratory of Tropic Disease Control, Ministry Education, Sun Yat-sen University, 74 Zhongshan Road 2, Guangzhou, 510080, China. jweiying@hotmail.com
authors.forename: Wei Ying
authors.initials: WY
authors.lastname: Jiang
authors.forename: Bing Yi
authors.initials: BY
authors.lastname: Zhou
authors.forename: Guo Long
authors.initials: GL
authors.lastname: Yu
authors.forename: Han
authors.initials: H
authors.lastname: Liu
authors.forename: Jing Bo
authors.initials: JB
authors.lastname: Zeng
authors.forename: Qun Di
authors.initials: QD
authors.lastname: Lin
authors.forename: Hong Li
authors.initials: HL
authors.lastname: Xi
authors.forename: Hua
authors.initials: H
authors.lastname: Liang
mesh_terms: D044466:Asian People / Q000235:genetics; D002681:China / Q000208:ethnology; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D005260:Female; D005787:Gene Frequency; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics* / Q000378:metabolism*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D012680:Sensitivity and Specificity
chemical_list: D005954:Glucosephosphate Dehydrogenase