DiaPlexC™ G6PD Genotyping Kit (African type)

The DiaPlexC™ G6PD Genotyping Kit is designed to screen for a G6PD (Glucose-6-phosphate dehydrogenase) deficiency using an allele-specific Multiplex PCR which can detect multiple specific target genes in a single PCR.

Pathogen Information

G6PD, glucose-6-phosphate dehydrogenase is an enzyme found in the red blood cells (RBCs, erythrocytes). Its role is to protect RBCs from molecules called reactive oxygen that is usually formed in oxidative stress or after taking certain medication like antimalarial drugs. People with a G6PD deficiency can tolerate small amounts of these exposures, depending on the specific defect present in the gene. The G6PD deficiency is an X-linked recessive hereditary disease that is due to the single nucleotide polymorphism in certain target genes as mentioned below. In a G6PD deficiency condition, RBCs undergo a process called hemolysis that leads to anemia, even jaundice and kidney failure if untreated. A blood test may show as normal in a person with G6PD deficiency if it is done during or immediately following an acute episode of hemolysis. Genotyping of the G6PD gene is therefore important for taking early steps to maintain the health.

Detection Technology

Conventional PCR

Specimens

Blood

Target Genes

– A-376A → G, 202G → A, A-376A → G, 968T → C
– A-376A → G, 680G → T, A-376A → G, 542A → T
– Mediterranean: 563C → T, 376A → G

Features

HotStart PCR System: Ultra highly-specific and sensitive result.
Multiplex PCR: Multiplex targets in a single reaction.
Reliable System: Automatic PCR control and internal control.
Easy-to-use Master Mix: Just add the template and primer.
CE Certification.

Contents

2X Multiplex PCR Smart mix.
Primer mixture.
Standard marker.
Mutant type control.
Wild type control.
Nuclease-free Water.

References

1.Mehta, A,Mason, P.J., and Vulliamy, T.J. (2000) Glucose-6-phosphate dehydrogenase deficiency. Baillieres Best Prat. Res. Clin. Haematol. 13, 21-38

2.Beutler, E.,Kuhl, W.,Vives-Corrons, J.L., and Prchal, J.T.(1989) Molecular heterogeneity of glucose-6-phosphate dehydrogense deficiency A-. Blood 74, 2550-2555

3.Saenz, G. F.,Chaves, M.,Berrantes, A.,Elizondo, J.,Montero, A. G., and Yoshida, A. (1984) A glucose-6-phosphate dehydrogenase variant, Gd(-) Santamaria found in Costa Rica, Acta Haematol. 72, 37-40

4.Longo, L.,Vanegas, O. C.,Patel, M.,Rosti, V.,Li, H.,Waka, J.,Merghoub, T.,Pandolfi, P.P.,Notaro Ordering