First report of Glucose-6-phosphate dehydrogenase (G6PD) variants (Mahidol and Acores) from malaria-endemic regions of northeast India and their functional evaluations in silico.

First report of Glucose-6-phosphate dehydrogenase (G6PD) variants (Mahidol and Acores) from malaria-endemic regions of northeast India and their functional evaluations in silico. Acta Trop. 2019 Oct 31;:105252 Authors: Bharti RS, Vashisht K, Ahmed N, Nayak A, Pande V, Mishra N Abstract G6PD deficiency results from numerous mutations in the G6PD gene and can cause alterations in enzyme function up to varying degrees. P. vivax malaria infections require G6PD deficiency screening because of the potential risk of haemolysis by the gametocytocidal drug (primaquine) during the radical treatment. . The present study investigated the incidence of G6PD deficiency from northeast India and further, molecular characterization was performed. During 2014-16, a total of 1,015 patients from four north-eastern states of India (Tripura, Mizoram, Meghalaya & Arunachal Pradesh), were screened for G6PD deficiency, using Beutler's fluorescence spot test (FST) and confirmed with SPAN kit. The deficient individuals (55/1015, 5.4%) were further characterized by PCR-RFLP and DNA sequencing except one case of loss to follow up. As observed by FST, the frequency of G6PD deficient males (42/538, 7.8%) were found to be higher than females (13/477, 2.73%), (p < 0.0001). Two non-synonymous mutations; G6PD-D (Mahidol)487A (48/54, 88.9%; 36 hemizygous males, 8 homozygous and 4 heterozygous females) and G6PD-D (Acores)595T (2/54, 3.7%) were identified. Remainin...
Source: Acta Tropica - Category: Infectious Diseases Authors: Tags: Acta Trop Source Type: research