G6PD DEFICIENCY AND APPLICATION OF THE MPTP TECHNIQUE

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive enzyme disorder that affects an estimated 200-400 million people. More than four hundred biochemical variants have been identified reflecting the vast heterogeneity of this disorder. At the molecular level, less than a hundred mutations have been characterized indicating a need for a rapid and efficient approach for mutational screening of G6PD deficient individuals in different populations. A technique called multiplex PCR using multiple tandem forward primers and a common reverse primer (MPTP technique) was recently developed. It was initially tested in Singapore population where the incidence of this deficiency occurs at approximately 3% of newborn males. The MPTP technique allows quick and comprehensive screening of point mutations and can be adopted to detect common variants such as 1376G→T (G6PD Canton) and 1388G→A (G6PD Kaiping) in mutation hot spots for specific populations. This paper presents a brief review on G6PD deficiency and the application of the MPTP technique for screening this disorder.