title: Prevalence of glucose-6-phosphate dehydrogenase deficiency and the role of the A- variant in a Saudi population.
abstract: OBJECTIVE
  To estimate the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among Saudi men, and to establish the frequency of the two mutations/polymorphisms associated with the G6PD A- mutation--G to A at nucleotide 202 (G202A) and A to G at nucleotide 376 (A376G)--in those found to have G6PD deficiency.
  
  
  METHODS
  Blood samples were obtained from healthy male Saudi donors and screened for G6PD deficiency using a ﬂuorescent spot test. Samples from subjects shown to be G6PD deficient and controls were then analysed for the presence of the G202A and A376G mutations on exons 4 and 5, respectively, of the G6PD gene using polymerase chain reaction followed by restriction fragment length polymorphism.
  
  
  RESULTS
  A total of 2100 male subjects were screened; of these, 100 (4.76%) were shown to be G6PD deficient. The G6PD A- mutation (presence of both G202A and A376G) was observed in two (2%) of the 100 subjects with G6PD deficiency. There was no significant difference in the frequency of this mutation between those with G6PD deficiency and controls.
  
  
  CONCLUSIONS
  The G6PD A- mutation (G202A and A376G) does not appear to have a role in G6PD deficiency in a Saudi population.
authors.affiliation: Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Khalid Khalaf
authors.initials: KK
authors.lastname: Alharbi
authors.affiliation: Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Kingdom of Saudi Arabia imkhan@ksu.edu.sa.
authors.forename: Imran Ali
authors.initials: IA
authors.lastname: Khan
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D005500:Follow-Up Studies; D005838:Genotype; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D015995:Prevalence; D011379:Prognosis; D012529:Saudi Arabia / Q000453:epidemiology; D055815:Young Adult
chemical_list: D005954:Glucosephosphate Dehydrogenase; C482910:glucose-6-phosphate dehydrogenase A-
keywords: A376G; A− mutation; G202A; Glucose-6-phosphate dehydrogenase; Saudi population