Prevalence and spectrum of mutations causing G6PD deficiency in Indian populations.

Autor: Devendra R; ICMR-National Institute of Immunohaematology (NIIH), 13th Floor, K.E.M Hospital campus, Parel, Mumbai 400012. India., Gupta V; ICMR-National Institute of Immunohaematology (NIIH), 13th Floor, K.E.M Hospital campus, Parel, Mumbai 400012. India., Shanmugam R; ICMR-National Institute for Research in Tribal Health (NIRTH), Department of Health Research, Ministry of Health & Family Welfare, NIRTH Complex, Nagpur Road, P.O.- Garha, Jabalpur, Madhya Pradesh 482003, India., Singh MPSS; ICMR-National Institute for Research in Tribal Health (NIRTH), Department of Health Research, Ministry of Health & Family Welfare, NIRTH Complex, Nagpur Road, P.O.- Garha, Jabalpur, Madhya Pradesh 482003, India., Patel P; ICMR-National Institute for Research in Tribal Health (NIRTH), Department of Health Research, Ministry of Health & Family Welfare, NIRTH Complex, Nagpur Road, P.O.- Garha, Jabalpur, Madhya Pradesh 482003, India., Valecha N; ICMR-National Institute of Malaria Research (NIMR), Sector 8 Dwarka, Dwarka, New Delhi, Delhi 110077, India., Mishra N; ICMR-National Institute of Malaria Research (NIMR), Sector 8 Dwarka, Dwarka, New Delhi, Delhi 110077, India., Ahmed N; ICMR-National Institute of Malaria Research (NIMR), Sector 8 Dwarka, Dwarka, New Delhi, Delhi 110077, India., Hoti SL; ICMR-National Institute of Traditional Medicine (NITM), Nehru Nagar, Belgavi, Karnataka 590010, India., Hegde HV; ICMR-National Institute of Traditional Medicine (NITM), Nehru Nagar, Belgavi, Karnataka 590010, India., Warang P; ICMR-National Institute of Immunohaematology (NIIH), 13th Floor, K.E.M Hospital campus, Parel, Mumbai 400012. India., Chiddarwar A; ICMR-National Institute of Immunohaematology (NIIH), 13th Floor, K.E.M Hospital campus, Parel, Mumbai 400012. India., Kedar P; ICMR-National Institute of Immunohaematology (NIIH), 13th Floor, K.E.M Hospital campus, Parel, Mumbai 400012. India., Mayekar P; ICMR-National Institute of Immunohaematology (NIIH), 13th Floor, K.E.M Hospital campus, Parel, Mumbai 400012. India., Mukherjee MB; ICMR-National Institute of Immunohaematology (NIIH), 13th Floor, K.E.M Hospital campus, Parel, Mumbai 400012. India. Electronic address: malaybmukherjee@gmail.com.
Jazyk: angličtina
Zdroj: Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases [Infect Genet Evol] 2020 Dec; Vol. 86, pp. 104597. Date of Electronic Publication: 2020 Oct 16.
DOI: 10.1016/j.meegid.2020.104597
Abstrakt: 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.
(Copyright © 2020 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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