title: Structure and function of glucose-6-phosphate dehydrogenase-deficient variants in Chinese population.
abstract: A systematic study on the structure and function of Glucose-6-phosphate dehydrogenase (G6PD) variations was carried out in China. A total of 155,879 participants were screened for G6PD deficiency by the G6PD/6PGD ratio method and 6,683 cases have been found. The prevalence of G6PD deficiency ranged from 0 to 17.4%. With informed consent, 1,004 cases from 11 ethnic-based groups were subjected to molecular analysis. Our results showed the followings: (1) The G6PD variants are consistent across traditional ethnic boundaries, but vary in frequencies across ethnic-based groups in Chinese population, (2) The G6PD variants in Chinese population are different from those in African, European, and Indian populations, (3) A novel G6PD-deficiency mutation, 274C-->T, has been found, and (4) Denaturing high performance liquid chromatography is of great advantage to detecting G6PD-deficient mutations for diagnosis and genetic counseling. Moreover, functional analysis of the human G6PD variants showed the following: (1) The charge property, polarity, pK-radical and side-chain radical of the substituting amino acid have an effect on G6PD activity, (2) The G6PDArg459 and Arg463 play important roles in anchoring NADP+ to the catalytic domain to maintain the enzymatic activity, and (3) The sequence from codon 459 to the carboxyl terminal is essential for the enzymatic function.
authors.affiliation: Department of Medical Genetics, Medical School, Sun Yat-sen University, Guangzhou, China, jweiying@hotmail.com
authors.forename: Weiying
authors.initials: W
authors.lastname: Jiang
authors.forename: Guolong
authors.initials: G
authors.lastname: Yu
authors.forename: Peng
authors.initials: P
authors.lastname: Liu
authors.forename: Qian
authors.initials: Q
authors.lastname: Geng
authors.forename: Luming
authors.initials: L
authors.lastname: Chen
authors.forename: Qundi
authors.initials: Q
authors.lastname: Lin
authors.forename: Xiaoqin
authors.initials: X
authors.lastname: Ren
authors.forename: Wenhong
authors.initials: W
authors.lastname: Ye
authors.forename: Yongshu
authors.initials: Y
authors.lastname: He
authors.forename: Yibin
authors.initials: Y
authors.lastname: Guo
authors.forename: Shan
authors.initials: S
authors.lastname: Duan
authors.forename: Jing
authors.initials: J
authors.lastname: Wen
authors.forename: Haiyuan
authors.initials: H
authors.lastname: Li
authors.forename: Yan
authors.initials: Y
authors.lastname: Qi
authors.forename: Chengrui
authors.initials: C
authors.lastname: Jiang
authors.forename: Yongmei
authors.initials: Y
authors.lastname: Zheng
authors.forename: Chun
authors.initials: C
authors.lastname: Liu
authors.forename: En
authors.initials: E
authors.lastname: Si
authors.forename: Qin
authors.initials: Q
authors.lastname: Zhang
authors.forename: Qiuhong
authors.initials: Q
authors.lastname: Tian
authors.forename: Chuanshu
authors.initials: C
authors.lastname: Du
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D002681:China; D005260:Female; D005820:Genetic Testing; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry* / Q000235:genetics / Q000502:physiology*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008297:Male; D009249:NADP / Q000378:metabolism; D017433:Protein Structure, Secondary / Q000235:genetics; D013329:Structure-Activity Relationship
chemical_list: D009249:NADP; D001120:Arginine; D005954:Glucosephosphate Dehydrogenase