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VOL. 11, ISSUE 2 (2025)
Distribution of Mutations in Glucose-6-Phosphate Dehydrogenase Gene: A Review
Authors
Jelani I
Abstract
The knowledge of possible mutations in the
exons, introns and promoter regions of glucose-6-phosphate dehydrogenase
(G-6-PD) gene are indispensable to improve neonatal health in Jaundice babies
and prevent haemolytic episodes through appropriate drug selection in a
deficient and COVID-19 infected subject. G-6-PD deficiency literature was
independently searched from science direct and PubMed databases. Thirty-eight
selected cross-sectional studies published between 1991 and 2024 were assessed
for quality assessments with Strengthening the Reporting of Observational
Studies in Epidemiology (STROBE) Statement. The inter-rater reliability was
good (kappa=0.76). The study reveals that majority of the mutations were G-6-PD
Africa (G202A/A376G), followed by G-6-PD Mediterranean (C563T) with occurrence
among African, Asian, Europe and Middle East populations. The G-6-PD (A-)
(A376G/G202A) variants were found among Americans and the single mutation A376G
co-exists with other G-6-PD variants to produce double mutations. The review
concludes that G-6-PD mutations were not found in the promoter but within the
coding and non-coding regions of the gene. The observed G-6-PD (A-)
variant is a frequent polymorphism across the globe, and its molecular
characterization could serve as a first line approach for identifying other
variants.
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Pages:55-60
How to cite this article:
Jelani I "Distribution of Mutations in Glucose-6-Phosphate Dehydrogenase Gene: A Review". International Journal of Medical and Health Research, Vol 11, Issue 2, 2025, Pages 55-60
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