title: Large cohort screening of G6PD deficiency and the mutational spectrum in the Dongguan District in Southern China.
abstract: BACKGROUND
  Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common enzymatic disorder of the erythrocytes that affects 400 million people worldwide. We developed a PCR-reverse dot blot (RDB) assay to screen twenty genotypes of seventeen Chinese G6PD mutations and investigate the spectrum of G6PD deficiency mutations in Dongguan District, Guangdong Province, in southern China.
  
  
  METHODS
  The PCR-RDB assay consists of multiplex PCR amplification of seven fragments in the G6PD target sequence of wild-type and mutant genomic DNA samples followed by hybridization to a test strip containing allele-specific oligonucleotide probes. A total of 16,464 individuals were analyzed by a combination of phenotypic screening and genotypic detection using the PCR-RDB assay and DNA sequence analysis.
  
  
  RESULTS
  The PCR-RDB assay had a detection rate of 98.1%, which was validated by direct sequencing in a blind study with 100% concordance. The G6PD deficiency incidence rate in Dongguan District is 4.08%. Thirty-two genotypes from 469 individuals were found. The two most common variants were c.1376G>T and c.1388G>A, followed by c.95A>G, c.871G>A, c.392G>T, and c.1024 C>T. In addition, two rare mutations (c.703C>A and c.406C>T) were detected by DNA sequencing analysis. In our study, 65 cases harbored the C1311T/IVS polymorphism and 67 cases were homozygote.
  
  
  CONCLUSIONS
  The PCR-RDB assay we established is a reliable and effective method for screening G6PD mutations in the Chinese population. Data on the spectrum of mutations in the Dongguan District is beneficial to the clinical diagnosis and prevention of G6PD deficiency.
authors.affiliation: The Eighth People's Hospital of Dongguan, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Peng
authors.affiliation: The Eighth People's Hospital of Dongguan, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.
authors.forename: Siping
authors.initials: S
authors.lastname: Li
authors.affiliation: The Eighth People's Hospital of Dongguan, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.
authors.forename: Keze
authors.initials: K
authors.lastname: Ma
authors.affiliation: The Eighth People's Hospital of Dongguan, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.
authors.forename: Wenrui
authors.initials: W
authors.lastname: Li
authors.affiliation: The Eighth People's Hospital of Dongguan, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Ma
authors.affiliation: The Eighth People's Hospital of Dongguan, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.
authors.forename: Xiaoguang
authors.initials: X
authors.lastname: He
authors.affiliation: The Eighth People's Hospital of Dongguan, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.
authors.forename: Yuejing
authors.initials: Y
authors.lastname: He
authors.affiliation: The Eighth People's Hospital of Dongguan, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.
authors.forename: Ting
authors.initials: T
authors.lastname: He
authors.affiliation: The Eighth People's Hospital of Dongguan, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.
authors.forename: Xiaomei
authors.initials: X
authors.lastname: Lu
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D005954:Glucosephosphate Dehydrogenase