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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Main Authors: 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
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC5120827?pdf=render
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spelling 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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