1921
Volume 98, Issue 1
  • ISSN: 0002-9637
  • E-ISSN: 1476-1645
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Abstract

Abstract.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked erythrocyte enzyme disorder with relevance to malaria treatment policy. Treatment with the antimalarial primaquine can result in hemolytic anemia in G6PD-deficient patients. With increased interest in primaquine use, it is important to identify G6PD variants in Ethiopia to inform malaria treatment policy. In the present study, mutations in the gene are identified in a sample of patients with malaria in Jimma town in southwest Ethiopia. species of infection were confirmed using polymerase chain reaction (PCR) and gel electrophoresis. PCR and Sanger sequencing were performed to observe a portion of the gene where the common mutations (A376G, G202A, and C563T) are found. Molecular analysis revealed that most of the samples were single infections (83.7%). For genotyping, A376G was detected in 23.26% of individuals, whereas G202A and C563T were absent. Three other uncommon mutations were identified: rs782669677 (535G→A), rs370658483, (485 + 37 G→T), and a new mutation at chrX:154535443(C→T). Bioinformatic analysis of these mutations’ potential functional impact suggests minimal effect on protein function. The discovery of both common and uncommon mutations contributes to the discussion on G6PD deficiency and appropriate primaquine treatment in Ethiopia.

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/content/journals/10.4269/ajtmh.17-0557
2018-01-10
2018-06-19
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  • Received : 12 Jul 2017
  • Accepted : 08 Sep 2017

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