Prevalence and spectrum of mutations causing G6PD deficiency in Indian populations
| Autor: | Ashish Chiddarwar, M. P. Singh, Purushottam Patel, Prabhakar Kedar, Pramod Mayekar, Rati Devendra, Harsha V. Hegde, Neelima Mishra, Naseem Ahmed, Vinodkumar Gupta, Malay B. Mukherjee, Rajasubramaniam Shanmugam, Prashant Warang, Neena Valecha, S.L. Hoti |
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| Rok vydání: | 2020 |
| Předmět: |
Male
0301 basic medicine Microbiology (medical) congenital hereditary and neonatal diseases and abnormalities Genotype 030106 microbiology Prevalence India Glucosephosphate Dehydrogenase Biology Microbiology DNA sequencing 03 medical and health sciences Exon hemic and lymphatic diseases parasitic diseases Genetics medicine Humans Genetic Predisposition to Disease Molecular Biology Alleles Ecology Evolution Behavior and Systematics nutritional and metabolic diseases Haemolysis medicine.disease Enzyme assay Deleterious alleles Glucosephosphate Dehydrogenase Deficiency 030104 developmental biology Infectious Diseases Population Surveillance Mutation biology.protein Female Novel mutation Malaria |
| Zdroj: | Infection, Genetics and Evolution. 86:104597 |
| ISSN: | 1567-1348 |
| DOI: | 10.1016/j.meegid.2020.104597 |
| Popis: | Background Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common human erythroenzymopathy affecting around 10% of the world population. India is endemic for malaria and antimalarial drugs are known to induce haemolysis in G6PD deficient individuals. Here we report the prevalence as well as the molecular diversity of G6PD deficiency in geographical regions of India. Methods and results A total of 20,896 individuals (11,838 males and 9058 females) were screened by DPIP dye decolorisation method followed by quantitation of G6PD enzyme activity on the suspected samples. Molecular analysis was undertaken in a total of 350 G6PD deficient individuals by PCR-RFLP and DNA sequencing. A structural characteristic of the novel variant was deduced by using DynaMut web-server. The prevalence rate of G6PD deficiency varied between 0.8 and 6.3% with an overall prevalence of 1.9%. A total of twelve mutations were identified. Of the total deleterious alleles detected G6PD Orissa (56.5%) was found to be the most predominant variant followed by G6PD Mediterranean (23.6%). G6PD Mediterranean, G6PD Kaiping and G6PD Mahidol were found to be severely deficient variant and 14.1% of them showed undetectable activity. A novel mutation c.544C➔G (R182G) in exon 6 was identified in one tribal male where substitution of arginine by glycine, likely causes the alteration in the alpha helix leading to disruption of secondary structure of the protein. Conclusion There are large differences in the distribution of G6PD causal variants between Indian states, and this may have implications for the treatment in the malaria endemic areas. |
| Databáze: | OpenAIRE |
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