Comparative study for the detection of 563 C-T G6PD mutation using restriction enzyme assay and amplification and refractory mutation system [ARMS]

ABSTRACT

G6PD deficiency is the most common enzyme disorder in humans and is characterized by considerable biochemical and molecular heterogeneity. The prevalence of G6PD deficiency in the Middle East varies greatly, ranging from 1% among Egyptians to 11.5% among Iranians. G6PD Mediterranean [563 C-T] mutation is probably the most common G6PD variant in the world. The relative frequency of this mutation ranges from 70% among Egyptians to 97% for Kurdish Jews. This study was conducted on 30 Egyptian pediatric G6PD-deficient patients. Quantitation of G6PD enzyme was performed before molecular analyses, during, and one month after the hemolytic attack. The frequency of the mutation was investigated using two methods; the reference method; RFLPs and ARMS technique. The aim of this study was to compare both methods. Both methods gave identical results, yet ARMS method is easier and less time consuming