Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency considered to be the commonest inherited enzymopathies disorders worldwide including Iraq. Studies have addressed its prevalence and molecular characterization in several parts of the country, but no data were available from Nineveh province, northwestern-Iraq regarding molecular basis of this inherited enzymopathy. To determine the molecular basis of G6PD deficient variants in Nineveh province. A total of 61 G6PD deficient male individuals from Nineveh province were enrolled in this study. DNA from all enrolled individuals were extracted and analyzed for four deficient molecular variants using a polymerase chain reaction-restriction fragment polymorphism method. These deficient variants were G6PD-Mediterranean (563 C→T), G6PD-Chatham (1003 G→A), G6PD-A-(202 G→A) and G6PD-Cosenza (1376 G→C). Also enrolled individuals were screened for silent 1311 (C→T) mutation. It was found that 46 (75.41 %) were G6PD-Mediterranean, 1(1.64 %) were G6PD-Chatham, another 1(1.64 %) were G6PD-A-, and 13 (21.31 %) were remained uncharacterized. Also all G6PD-Mediterranean as well as one uncharacterized individuals were carriers of silent 1311 (C→T) mutation. This study documented that G6PD-Mediterranean constitute the bulk of G6PD deficient variants in this province and G6PD-Chatham and A- were encountered less frequently. Also that silent 1311 (C→T) mutation were common among G6PD-Mediterranean deficient variants individuals.