title: Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China.
abstract: BACKGROUND
  Glucose-6-phosphate dehydrogenase (G6PD) deficiency is highly prevalent in southern China. The aim of this study is to assess the extent of this disease in Chinese neonates and determine its molecular characteristics using a novel molecular screening method.
  
  
  METHODS
  A total of 2500 neonates were routinely screened for G6PD deficiency using a modified fluorescent spot test (FST). PCR-high-resolution melting (HRM) analysis was then used for the molecular assay.
  
  
  RESULTS
  The overall incidence of G6PD deficiency was 2.68% in our study cohort. Frequency in male population was 3.22% (44 neonates of 1365 male neonates), and in female population was 2.03% (23 neonates of 1135 female neonates). Of the 67 newborns suspected to be G6PD deficient based on FST (44 males, 23 females), 58 of 67 (87%) were detected with gene alterations. Seven kinds of mutations [c.95A>G, c.392G>T, c.493A>G, c.871G>A, c.1360C>T, c.1376G>T, and c.1388G>A] were identified by HRM analysis.
  
  
  CONCLUSIONS
  Routine newborn screening in Chaozhou, China with a relatively high prevalence of G6PD deficiency is justified and meets the World Health Organization recommendation. The usage of molecular diagnosis can favor the detection of heterozygotes which can be a supplement to regular newborn screening and useful for premarital and prenatal diagnosis for G6PD deficiency.
authors.affiliation: Laboratory Medical Center, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, China; Laboratory Medical Center, Nanfang Hospital, Southern Medical University, Guangzhou, China.
authors.forename: H
authors.initials: H
authors.lastname: Yang
authors.forename: Q
authors.initials: Q
authors.lastname: Wang
authors.forename: L
authors.initials: L
authors.lastname: Zheng
authors.forename: X-F
authors.initials: XF
authors.lastname: Zhan
authors.forename: M
authors.initials: M
authors.lastname: Lin
authors.forename: F
authors.initials: F
authors.lastname: Lin
authors.forename: X
authors.initials: X
authors.lastname: Tong
authors.forename: Z-Y
authors.initials: ZY
authors.lastname: Luo
authors.forename: Y
authors.initials: Y
authors.lastname: Huang
authors.forename: L-Y
authors.initials: LY
authors.lastname: Yang
mesh_terms: D000483:Alleles; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D005954:Glucosephosphate Dehydrogenase
keywords: G6PD deficiency; gene mutation; high resolution melting analysis; newborn screening