Abstract
The study involved extraction of Deoxyribonucleic acid (DNA) from 71 samples of random G6PD patients and 85 samples of apparently healthy individuals from different Iraqi populations respectively, which was then amplified by polymerase chain reaction (PCR) and later subjected to digestion by restriction enzyme to create restriction fragment length polymorphism (RFLP) to enable the detection of mutation that caused G6PD deficiency namely Mediterranean (Med). The results of the current study showed that Iraqies were affected by G6PD deficiency in a percentage of 7.2% and showed that the majority of affected cases were caused by Med mutation (95.8%). It could be concluded that Med mutation causes a serious impact on pediatric health and its the most prevalent cause of G6PD deficiency.
Highlights
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary disorder in humans and is found in people of Mediterranean, South-east Asian and African descent
G6PD Mediterranean is a deficient variant with enzyme activity that is less than 10% of the activity of G6PD B; it reaches allele frequencies of between 10 and 25 or higher in many populations in the Mediterranean region and the near and middle east
Deoxyribonucleic acid (DNA) Extraction The genomic DNA was extracted from white blood cells from the G6PD deficient and apparently healthy individuals, the whole fresh blood collected in EDTA anticoagulant tubes using Wizard genomic DNA purification kits
Summary
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary disorder in humans and is found in people of Mediterranean, South-east Asian and African descent. The G6PD is one of a cluster of genes on the distal long arm of the X-chromosome (Xq28). G6PD Mediterranean is a deficient variant with enzyme activity that is less than 10% of the activity of G6PD B; it reaches allele frequencies of between 10 and 25 or higher in many populations in the Mediterranean region and the near and middle east. This variant is a consequence of a cytosine to thymine substitution at nucleotide number 563 resulting in a serine to phenylalanine substitution at amino acid number 188 [3]. The aim of this study was to determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Iraqi population, and describe the Mediterranean (Med) mutation in the population
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