DNA sequences of human Glucose 6-Phosphate Dehydrogenase cloned in pBR322

Glucose-6-phosphate dehydrogenase (G6PD) catalyses the first reaction of the so-called oxidative pathway of glucose metabolism. In many cells, in addition to providing pentose sugars required for nucleic acid synthesis, G6PD has a major role in providing an adequate supply of reducing power in the form of NADPH. The enzyme has been purified and characterized from many sources. G6PD from mammalian cells consists of a homodimer or a homotetramer, with a subunit molecular weight of about 58,000, and its structural gene is located on the X chromosome. Genetic variation of G6PD is extensive in humans. Many variants associated with relative deficiency of enzyme activity (G6PD(-)) are polymorphic in various populations and have probably been selected for by Plasmodium falciparum malaria. A number of G6PD(-) variants can cause either acute or chronic haemolytic anaemia and therefore have considerable clinical importance. We considered that a knowledge of the G6PD gene would be of interest because it may be representative of a large number of genes and could help to elucidate in detail the basis of various forms of G6PD deficiency. Here we report how G6PD cDNA sequences have been cloned starting from human mRNA in which G6PD mRNA is present at an abundance of less than 10-4