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AuthorDoss, C. George Priya
AuthorAlasmar, Dima R.
AuthorBux, Reem I.
AuthorSneha, P.
AuthorBakhsh, Fadheela Dad
AuthorAl-Azwani, Iman
AuthorEl Bekay, Rajaa
AuthorZayed, Hatem
Available date2016-12-28T06:30:25Z
Publication Date2016-11-17
Publication NameScientific Reportsen_US
Identifierhttp://dx.doi.org/10.1038/srep37284
CitationDoss, C. G. P. et al. Genetic Epidemiology of Glucose-6-Dehydrogenase Deficiency in the Arab World. Sci. Rep. 6, 37284; (2016).
URIhttp://hdl.handle.net/10576/5130
AbstractA systematic search was implemented using four literature databases (PubMed, Embase, Science Direct and Web of Science) to capture all the causative mutations of Glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDD) in the 22 Arab countries. Our search yielded 43 studies that captured 33 mutations (23 missense, one silent, two deletions, and seven intronic mutations), in 3,430 Arab patients with G6PDD. The 23 missense mutations were then subjected to phenotypic classification using in silico prediction tools, which were compared to the WHO pathogenicity scale as a reference. These in silico tools were tested for their predicting efficiency using rigorous statistical analyses. Of the 23 missense mutations, p.S188F, p.I48T, p.N126D, and p.V68M, were identified as the most common mutations among Arab populations, but were not unique to the Arab world, interestingly, our search strategy found four other mutations (p.N135T, p.S179N, p.R246L, and p.Q307P) that are unique to Arabs. These mutations were exposed to structural analysis and molecular dynamics simulation analysis (MDSA), which predicting these mutant forms as potentially affect the enzyme function. The combination of the MDSA, structural analysis, and in silico predictions and statistical tools we used will provide a platform for future prediction accuracy for the pathogenicity of genetic mutations.
SponsorQUST-CAS-FALL-15/16-24 grant
Languageen
PublisherNature Publishing Group
SubjectHaematological diseases
SubjectProtein structure predictions
SubjectArab countries
TitleGenetic Epidemiology of Glucose-6-Dehydrogenase Deficiency in the Arab World
TypeArticle
Volume Number6
dc.identifier.essn 2045-2322


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