Jahnvi Jakhan, Loick Pradel Kojom Foko, Geetika Narang, Vineeta Singh
{"title":"葡萄糖-6-磷酸脱氢酶变体：分析印度间日疟原虫患者。","authors":"Jahnvi Jakhan, Loick Pradel Kojom Foko, Geetika Narang, Vineeta Singh","doi":"10.1007/s11686-024-00883-2","DOIUrl":null,"url":null,"abstract":"<div><h3>Purpose</h3><p>Primaquine (PQ) is recommended for radical cure of <i>Plasmodium vivax</i> (<i>Pv</i>) malaria, but its utilization is still limited due to high risk of severe haemolytic anaemia in patients with glucose-6-phosphate dehydrogenase deficiency (G6PD-d). The aim of the present study is to assess the different genotypic variants leading to G6PD-d in Delhi and Goa regions of India.</p><h3>Methods</h3><p>A total of 46 samples (34 retrospective <i>Pv</i>-mono-infected samples and 12 <i>Pv</i>-uninfected samples) were included in the study. Various genetic variants leading to G6PD-d were analysed by PCR amplification and DNA sequencing of different targeted exons of <i>G6PD</i> gene.</p><h3>Results</h3><p>Molecular analysis showed presence of four mutations in study population viz. 1311 C > T, 34.1% & IVSXI 93T > C, 45.5% and two novel mutations 1388G > T, 2.3% and 1398 C > T, 2.3% (silent mutation). The bioinformatics and computational analysis demonstrate that the slight conformational changes caused by R643L mutation in protein are deleterious in nature.</p><h3>Conclusion</h3><p>The observed mutations do not clarify the role or association between G6PD-d and <i>Pv</i>-infected cases. Further investigation is required in order to fully comprehend and analyse the precise role of these mutations with context to malaria infections.</p></div>","PeriodicalId":6932,"journal":{"name":"Acta Parasitologica","volume":"69 3","pages":"1522 - 1529"},"PeriodicalIF":1.2000,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s11686-024-00883-2.pdf","citationCount":"0","resultStr":"{\"title\":\"Glucose-6-phosphate Dehydrogenase Variants: Analysing in Indian Plasmodium vivax Patients\",\"authors\":\"Jahnvi Jakhan, Loick Pradel Kojom Foko, Geetika Narang, Vineeta Singh\",\"doi\":\"10.1007/s11686-024-00883-2\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Purpose</h3><p>Primaquine (PQ) is recommended for radical cure of <i>Plasmodium vivax</i> (<i>Pv</i>) malaria, but its utilization is still limited due to high risk of severe haemolytic anaemia in patients with glucose-6-phosphate dehydrogenase deficiency (G6PD-d). The aim of the present study is to assess the different genotypic variants leading to G6PD-d in Delhi and Goa regions of India.</p><h3>Methods</h3><p>A total of 46 samples (34 retrospective <i>Pv</i>-mono-infected samples and 12 <i>Pv</i>-uninfected samples) were included in the study. Various genetic variants leading to G6PD-d were analysed by PCR amplification and DNA sequencing of different targeted exons of <i>G6PD</i> gene.</p><h3>Results</h3><p>Molecular analysis showed presence of four mutations in study population viz. 1311 C > T, 34.1% & IVSXI 93T > C, 45.5% and two novel mutations 1388G > T, 2.3% and 1398 C > T, 2.3% (silent mutation). The bioinformatics and computational analysis demonstrate that the slight conformational changes caused by R643L mutation in protein are deleterious in nature.</p><h3>Conclusion</h3><p>The observed mutations do not clarify the role or association between G6PD-d and <i>Pv</i>-infected cases. Further investigation is required in order to fully comprehend and analyse the precise role of these mutations with context to malaria infections.</p></div>\",\"PeriodicalId\":6932,\"journal\":{\"name\":\"Acta Parasitologica\",\"volume\":\"69 3\",\"pages\":\"1522 - 1529\"},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2024-08-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://link.springer.com/content/pdf/10.1007/s11686-024-00883-2.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta Parasitologica\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://link.springer.com/article/10.1007/s11686-024-00883-2\",\"RegionNum\":3,\"RegionCategory\":\"农林科学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PARASITOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta Parasitologica","FirstCategoryId":"3","ListUrlMain":"https://link.springer.com/article/10.1007/s11686-024-00883-2","RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PARASITOLOGY","Score":null,"Total":0}
Glucose-6-phosphate Dehydrogenase Variants: Analysing in Indian Plasmodium vivax Patients
Purpose
Primaquine (PQ) is recommended for radical cure of Plasmodium vivax (Pv) malaria, but its utilization is still limited due to high risk of severe haemolytic anaemia in patients with glucose-6-phosphate dehydrogenase deficiency (G6PD-d). The aim of the present study is to assess the different genotypic variants leading to G6PD-d in Delhi and Goa regions of India.
Methods
A total of 46 samples (34 retrospective Pv-mono-infected samples and 12 Pv-uninfected samples) were included in the study. Various genetic variants leading to G6PD-d were analysed by PCR amplification and DNA sequencing of different targeted exons of G6PD gene.
Results
Molecular analysis showed presence of four mutations in study population viz. 1311 C > T, 34.1% & IVSXI 93T > C, 45.5% and two novel mutations 1388G > T, 2.3% and 1398 C > T, 2.3% (silent mutation). The bioinformatics and computational analysis demonstrate that the slight conformational changes caused by R643L mutation in protein are deleterious in nature.
Conclusion
The observed mutations do not clarify the role or association between G6PD-d and Pv-infected cases. Further investigation is required in order to fully comprehend and analyse the precise role of these mutations with context to malaria infections.
期刊介绍：
Acta Parasitologica is an international journal covering the latest advances in the subject.
Acta Parasitologica publishes original papers on all aspects of parasitology and host-parasite relationships, including the latest discoveries in biochemical and molecular biology of parasites, their physiology, morphology, taxonomy and ecology, as well as original research papers on immunology, pathology, and epidemiology of parasitic diseases in the context of medical, veterinary and biological sciences. The journal also publishes short research notes, invited review articles, book reviews.
The journal was founded in 1953 as "Acta Parasitologica Polonica" by the Polish Parasitological Society and since 1954 has been published by W. Stefanski Institute of Parasitology of the Polish Academy of Sciences in Warsaw. Since 1992 in has appeared as Acta Parasitologica in four issues per year.
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