title: A reverse dot blot assay for the expanded screening of eleven Chinese G6PD mutations.
abstract: BACKGROUND
  Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a multiethnic inherited disease with a particularly high prevalence in tropical and subtropical regions including southern China. A convenient and reliable method is required to detect common G6PD mutations in the Chinese population.
  
  
  METHODS
  We developed a reverse dot blot (RDB) assay for the expanded screening of eleven mutations (c.95A>G, c.392G>T, c.871G>A, c.1004C>T, c.1004C>A, c.1024C>T, c.1360C>T, c.1376G>T, c.1381G>A, c.1387C>T, c.1388G>A). The method consists of a single-tube multiplex PCR amplification of four 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. We applied our method to a group of 213 unrelated Chinese patients.
  
  
  RESULTS
  The test had a detection rate of 95.8%, validated by direct sequencing in a blind study with 100% concordance.
  
  
  CONCLUSIONS
  The results demonstrate that our reverse dot blot assay is an easy, reliable, high-yield and cost-effective method for genetic screening to identify G6PD patients and carriers among the Chinese population.
authors: Dongguan Institute of Pediatrics, Guangdong Medical Collage Affiliated Shilong Boai Hospital, 68 Xihu Third Road, Dongguan, Guangdong, China. lxm020@126.com
authors: Xiaomei
authors: X
authors: Lu
authors: Liang
authors: L
authors: Hua
authors: Ting
authors: T
authors: Zhang
authors: Siping
authors: S
authors: Li
authors: Xuejin
authors: X
authors: Fan
authors: Qi
authors: Q
authors: Peng
authors: Wenrui
authors: W
authors: Li
authors: Junqin
authors: J
authors: Ye
authors: Jianling
authors: J
authors: Long
authors: Xiaoguang
authors: X
authors: He
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D015151:Immunoblotting; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D016133:Polymerase Chain Reaction; D055815:Young Adult