Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked human enzyme defect of red blood cells (RBCs). Individuals with this gene defect appear normal until exposed to oxidative stress which induces hemolysis. Consumption of certain foods such as fava beans, legumes; infection with...
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doaj-80882bbc62da42238ac488d5c655d51d2020-11-25T00:40:51ZengPublic Library of Science (PLoS)PLoS ONE1932-62032016-01-011111e016697710.1371/journal.pone.0166977Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals.Suprovath Kumar SarkerMd Tarikul IslamGrace EckhoffMohammad Amir HossainSyeda Kashfi QadriA K M MuraduzzamanGolam Sarower BhuyanMohammod ShahidullahMohammad Abdul MannanSarabon TahuraManzoor HussainShahida AkhterNazmun NaharTahmina ShirinFirdausi QadriKaiissar MannoorGlucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked human enzyme defect of red blood cells (RBCs). Individuals with this gene defect appear normal until exposed to oxidative stress which induces hemolysis. Consumption of certain foods such as fava beans, legumes; infection with bacteria or virus; and use of certain drugs such as primaquine, sulfa drugs etc. may result in lysis of RBCs in G6PD deficient individuals. The genetic defect that causes G6PD deficiency has been identified mostly as single base missense mutations. One hundred and sixty G6PD gene mutations, which lead to amino acid substitutions, have been described worldwide. The purpose of this study was to detect G6PD gene mutations in hospital-based settings in the local population of Dhaka city, Bangladesh. Qualitative fluorescent spot test and quantitative enzyme activity measurement using RANDOX G6PDH kit were performed for analysis of blood specimens and detection of G6PD-deficient participants. For G6PD-deficient samples, PCR was done with six sets of primers specific for G6PD gene. Automated Sanger sequencing of the PCR products was performed to identify the mutations in the gene. Based on fluorescence spot test and quantitative enzyme assay followed by G6PD gene sequencing, 12 specimens (11 males and one female) among 121 clinically suspected patient-specimens were found to be deficient, suggesting a frequency of 9.9% G6PD deficiency. Sequencing of the G6PD-deficient samples revealed c.C131G substitution (exon-3: Ala44Gly) in six samples, c.G487A substitution (exon-6:Gly163Ser) in five samples and c.G949A substitution (exon-9: Glu317Lys) of coding sequence in one sample. These mutations either affect NADP binding or disrupt protein structure. From the study it appears that Ala44Gly and Gly163Ser are the most common G6PD mutations in Dhaka, Bangladesh. This is the first study of G6PD mutations in Bangladesh.http://europepmc.org/articles/PMC5120827?pdf=render |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Suprovath Kumar Sarker Md Tarikul Islam Grace Eckhoff Mohammad Amir Hossain Syeda Kashfi Qadri A K M Muraduzzaman Golam Sarower Bhuyan Mohammod Shahidullah Mohammad Abdul Mannan Sarabon Tahura Manzoor Hussain Shahida Akhter Nazmun Nahar Tahmina Shirin Firdausi Qadri Kaiissar Mannoor |
spellingShingle |
Suprovath Kumar Sarker Md Tarikul Islam Grace Eckhoff Mohammad Amir Hossain Syeda Kashfi Qadri A K M Muraduzzaman Golam Sarower Bhuyan Mohammod Shahidullah Mohammad Abdul Mannan Sarabon Tahura Manzoor Hussain Shahida Akhter Nazmun Nahar Tahmina Shirin Firdausi Qadri Kaiissar Mannoor Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals. PLoS ONE |
author_facet |
Suprovath Kumar Sarker Md Tarikul Islam Grace Eckhoff Mohammad Amir Hossain Syeda Kashfi Qadri A K M Muraduzzaman Golam Sarower Bhuyan Mohammod Shahidullah Mohammad Abdul Mannan Sarabon Tahura Manzoor Hussain Shahida Akhter Nazmun Nahar Tahmina Shirin Firdausi Qadri Kaiissar Mannoor |
author_sort |
Suprovath Kumar Sarker |
title |
Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals. |
title_short |
Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals. |
title_full |
Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals. |
title_fullStr |
Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals. |
title_full_unstemmed |
Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals. |
title_sort |
molecular analysis of glucose-6-phosphate dehydrogenase gene mutations in bangladeshi individuals. |
publisher |
Public Library of Science (PLoS) |
series |
PLoS ONE |
issn |
1932-6203 |
publishDate |
2016-01-01 |
description |
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked human enzyme defect of red blood cells (RBCs). Individuals with this gene defect appear normal until exposed to oxidative stress which induces hemolysis. Consumption of certain foods such as fava beans, legumes; infection with bacteria or virus; and use of certain drugs such as primaquine, sulfa drugs etc. may result in lysis of RBCs in G6PD deficient individuals. The genetic defect that causes G6PD deficiency has been identified mostly as single base missense mutations. One hundred and sixty G6PD gene mutations, which lead to amino acid substitutions, have been described worldwide. The purpose of this study was to detect G6PD gene mutations in hospital-based settings in the local population of Dhaka city, Bangladesh. Qualitative fluorescent spot test and quantitative enzyme activity measurement using RANDOX G6PDH kit were performed for analysis of blood specimens and detection of G6PD-deficient participants. For G6PD-deficient samples, PCR was done with six sets of primers specific for G6PD gene. Automated Sanger sequencing of the PCR products was performed to identify the mutations in the gene. Based on fluorescence spot test and quantitative enzyme assay followed by G6PD gene sequencing, 12 specimens (11 males and one female) among 121 clinically suspected patient-specimens were found to be deficient, suggesting a frequency of 9.9% G6PD deficiency. Sequencing of the G6PD-deficient samples revealed c.C131G substitution (exon-3: Ala44Gly) in six samples, c.G487A substitution (exon-6:Gly163Ser) in five samples and c.G949A substitution (exon-9: Glu317Lys) of coding sequence in one sample. These mutations either affect NADP binding or disrupt protein structure. From the study it appears that Ala44Gly and Gly163Ser are the most common G6PD mutations in Dhaka, Bangladesh. This is the first study of G6PD mutations in Bangladesh. |
url |
http://europepmc.org/articles/PMC5120827?pdf=render |
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