title: [Molecular epidemiology of G6PD deficiency in Chaozhou area of eastern Guangdong Province].
abstract: OBJECTIVE
  To determine the incidence and molecular characteristics of G6PD deficiency in Chaozhou region of eastern Guangdong Province.
  
  
  METHODS
  G6PD enzyme activity was assayed with an auto-bioanalyzer. Reverse dot blotting (RDB) was used for detecting 6 common G6PD mutations. Samples with no mutation detected by RDB were further sequenced for unknown mutations.
  
  
  RESULTS
  The rate of G6PD deficiency was 3.36% (142/4224). 2.33% (47/2013) of males and 4.3% (95/2208) of females were affected. 12 mutations were detected among the 142 patients, which included c.1376G>T, c.1388G>A, c.1024C>T, c.392G>T, c.871G>A, c.95A>G, c.517T>C, c.131C>G, c.1376G>T/c.517T>C, c.871G>A/IVS-1193T>C/c.1311C>T, c.1376G>T/IVS-11, 93T>C/c.1311C>T and c.1376G>T/c.486_34delT (rs3216174).
  
  
  CONCLUSIONS
  The incidence of G6PD deficiency in Chaozhou region was lower than that of the Hakka population of Guangdong Province, and the mutation types were diversely distributed in this region. c.1376G>T, c.1388G>A and c.1024C>T were the most common mutations, which was followed by c.517T>C. In addition, c.131C>G has been first discovered in the Chinese population. c.1376G>T/c.517T>C and c.1376G>T/c.486_34delT(rs3216174) were new types of compound heterozygous mutations in females.
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong 521021, China. yangleeyee@sina.com.
authors.forename: Fen
authors.initials: F
authors.lastname: Lin
authors.forename: Jiaoren
authors.initials: J
authors.lastname: Wu
authors.forename: Hui
authors.initials: H
authors.lastname: Yang
authors.forename: Min
authors.initials: M
authors.lastname: Lin
authors.forename: Liye
authors.initials: L
authors.lastname: Yang
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002681:China / Q000453:epidemiology / Q000208:ethnology; D005260:Female; D005838:Genotype; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology* / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics; D006801:Humans; D015994:Incidence; D008297:Male; D017720:Molecular Epidemiology; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D005954:Glucosephosphate Dehydrogenase