Incidence and association of 563 C/T Mediterranean and the silent 1311C/T G6PD mutations in G6PD-deficient Egyptian children
HH Arnaout, NM El-Gharbawy, IA Shaheen… - Laboratory …, 2011 - academic.oup.com
Laboratory Medicine, 2011•academic.oup.com
Background: Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD)
deficiency variants is essential, especially since the biochemical characterization has lost its
significance due to the individual variability. As a result, cases can be misdiagnosed. The
present study was designed to determine the incidence of G6PD Mediterranean (Med)
mutation among Egyptian children with G6PD deficiency as well as its molecular association
with the G6PD 1311T silent polymorphism. Methods: Fifty G6PD-deficient children were …
deficiency variants is essential, especially since the biochemical characterization has lost its
significance due to the individual variability. As a result, cases can be misdiagnosed. The
present study was designed to determine the incidence of G6PD Mediterranean (Med)
mutation among Egyptian children with G6PD deficiency as well as its molecular association
with the G6PD 1311T silent polymorphism. Methods: Fifty G6PD-deficient children were …
Background
Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency variants is essential, especially since the biochemical characterization has lost its significance due to the individual variability. As a result, cases can be misdiagnosed. The present study was designed to determine the incidence of G6PD Mediterranean (Med) mutation among Egyptian children with G6PD deficiency as well as its molecular association with the G6PD 1311T silent polymorphism.
Methods
Fifty G6PD-deficient children were subjected to quantitative G6PD enzyme assay. A polymerase chain reaction-amplification refractory mutation system (PCR-ARMS) technique was used to detect the G6PD Med mutation, and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to assess the associated G6PD 1311T silent polymorphism.
Results
G6PD Med was found in 62% and G6PD 1311T polymorphism in 52% of the patients. The association between both mutations was statistically significant.
Conclusion
Glucose-6-phosphate dehydrogenase Med mutation is 1 of the most common mutations causing G6PD deficiency among Egyptian children with G6PD deficiency, with linkage disequilibrium between this G6PD mutation and thymine at nucleotide (nt) 1311.
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