title: Incidence and complete molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Guangxi Zhuang autonomous region of southern China: description of four novel mutations.
abstract: OBJECTIVE
  Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human metabolic disorder in southern China. We investigated the incidence and distribution of mutations, the molecular pathology of affected females and the haplotype association with G6PD deficiency in patients from the Guangxi region.
  
  
  METHODS
  A population-based molecular analysis combining phenotypic screening and genotypic detection using both multiplex primer extension/denaturing high performance liquid chromatography assay and DNA sequence analysis were performed in a total of 4,704 individuals.
  
  
  RESULTS
  The mutation frequency of male G6PD-deficient individuals was observed to be 7.43%. Twenty-seven genotypes from 361 individuals were found. Statistical analysis showed that there were significant differences in both the percentages of methemoglobin and the G6PD/6PGD ratio between heterozygote and hemizygote in males and between heterozygote and homozygote in females. However, no statistically significance was seen between hemizyotes and homozygotes. The mutation profile showed that five mutations, G6PD Kaiping(1388A), G6PD Canton(1376T), G6PD Gaohe(95G), Chinese-5(1024T)and G6PD Viangchan(817A), are the most common in the area, accounting for 85% of the G6PD-deficient alleles. Ten rare mutations were detected in approximately 4% of the mutant chromosomes. Four novel mutations were found: G6PD Liuzhou(442A), G6PD Nanning(703T), G6PD Laibin(1414C,) and G6PD Hechi(202A/817A). In addition, two other rare mutations, c.196T-->A and c.202 G-->A, were detected for the first time in Chinese patients. A single dominant haplotype (- - + - -) was observed in 94.0% of 182 deficient chromosomes.
  
  
  CONCLUSIONS
  Our protocol could be used to extend the knowledge of molecular defects of G6PD gene in different geographical areas.
authors.affiliation: Department of Medical Genetics, Southern Medical University, Tonghe 510515, Guangzhou, Guangdong, PR China.
authors.forename: Tizhen
authors.initials: T
authors.lastname: Yan
authors.forename: Ren
authors.initials: R
authors.lastname: Cai
authors.forename: OiuHua
authors.initials: O
authors.lastname: Mo
authors.forename: DongLin
authors.initials: D
authors.lastname: Zhu
authors.forename: Hong
authors.initials: H
authors.lastname: Ouyang
authors.forename: Lihua
authors.initials: L
authors.lastname: Huang
authors.forename: Mingguang
authors.initials: M
authors.lastname: Zhao
authors.forename: Fen
authors.initials: F
authors.lastname: Huang
authors.forename: Liyan
authors.initials: L
authors.lastname: Li
authors.forename: Xin
authors.initials: X
authors.lastname: Liang
authors.forename: Xiangmin
authors.initials: X
authors.lastname: Xu
mesh_terms: D000328:Adult; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology* / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015994:Incidence; D008297:Male; D009154:Mutation
chemical_list: D005954:Glucosephosphate Dehydrogenase