Prevalence of glucose-6-phosphate dehydrogenase deficiency and the role of the A- variant in a Saudi population.
OBJECTIVES
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.


RESULT
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.


CONCLUSION
The G6PD A- mutation (G202A and A376G) does not appear to have a role in G6PD deficiency in a Saudi population.
['Alharbi|Khalid Khalaf|KK|', 'Khan|Imran Ali|IA|']
D000293:Adolescent D000328:Adult D016022:Case-Control Studies D005500:Follow-Up Studies D005838:Genotype D005954:Glucosephosphate Dehydrogenase D005955:Glucosephosphate Dehydrogenase Deficiency D006801:Humans D008297:Male D008875:Middle Aged D009154:Mutation D016133:Polymerase Chain Reaction D015995:Prevalence D011379:Prognosis D012529:Saudi Arabia D055815:Young Adult
Glucose-6-phosphate dehydrogenase Saudi population G202A A376G A− mutation