Molecular Characterization of Glucose 6-Phosphate Dehydrogenase (G6PD) Deficiency in Egypt

Introduction


Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common of all clinically significant enzyme defects, not only in hematology, but in human biology as a whole. More than 400 million people worldwide are affected by this enzymopathy. In Egypt, G6PD deficiency is a public health problem, affecting 2 to 9% of Egyptian males. Nearly 400 biochemically distinct variants were identified and more than 130 molecular mutations or combinations of mutations of the G6PD gene account for these variants. However, Data on genotypic variants of G6PD deficiency in Egypt are scarce. While a number of molecular diagnostic techniques are currently available at several clinical laboratories in Egypt. This collaborative research project, to be carried out by medical and biotechnology researchers, will introduce, for the first time, molecular diagnosis of a hematological disorder at MUST and aims at establishing a reference laboratory for the molecular diagnosis of G6PD deficiency in Egypt.

Objectives

  1. To perform a mutation spectrum analysis of as many unrelated G6PD deficient males as possible.
  2. To establish a reference laboratory for molecular diagnosis of G6PD deficiency in Egypt.
  3. To design a simple and cost effective molecular technique for detection of the common G6PD mutations in the Egyptian population.

Duration:                 2 Years

Starting date:          September, 2006

Results 

Polymerase Chain Reaction (PCR) protocols ,which represent the first step of the mutation spectrum analysis of the G6PD gene, for the isolation and identification of exons 4, 5, and 6 of the G6PD gene which are considered to be the most common mutation sites have been optimized and established for further analysis of the collected blood samples.