Title of article :
Molecular Identification of G6PD Chatham (1003 G>A) in North- West Iran
Author/Authors :
Onsori, Habib Cellular and Molecular Biology Department - Marand Branch - Islamic Azad University, Marand , Poladi, Davood Department Genetics - Ahar Branch - Islamic Azad University, Ahar , Valizadeh, Mehdi Unit of Genomics Research - Digestive Diseases Research Center - Ardabil University of Medical Sciences, Ardabil , Fathi, Afshin Pediatric Hematology & Oncology Department - Ardabil University of Medical Sciences, Ardabil , Damandan, Mahshid Center for Cell Pathology Research - Department of Life Science - Khazar University - Baku - Azerbaijan - Cellular and Molecular Research Center - School of Medicine - Ardabil University of Medical Sciences, Ardabil , Moradpour, Rouhallah Center for Cell Pathology Research - Department of Life Science - Khazar University - Baku - Azerbaijan - Cellular and Molecular Research Center - School of Medicine - Ardabil University of Medical Sciences, Ardabil
Abstract :
Background and objective: Glucose 6-phosphate dehydrogenase (G6PD)
deficiency is one of the most common human diseases with approximately
400 million people affected worldwide. G6PD Chatham is caused by 1003
G>A mutation leads to a severe enzymatic deficiency. The aim of the present
study is to investigate the frequency rate of the Chatham mutations in the
population of the North-West of Iran.
Material and Method: In this study, by Rapid Genomic DNA Extraction
(RGDE) method, from 90 peripheral blood samples of unrelated male and
female patients with genetic deficiency of G6PD, DNA was extracted and
after digestion by Bstx1 enzymes, in order to search for Chatham mutation,
they were analyzed by means of PCR-RFLP and sequencing methods.
Result: According to the results, Chatham mutation was observed in 10
samples (11.11%).
Conclusion: This study showed that G6PD Chatham (1003 G>A) mutation is
the second common mutation, after Mediterranean (563C>T), in the
population of the North-West of Iran. Further studies are recommended to
identify the mutation type of other varieties.
Keywords :
Glucose 6-phosphate dehydrogenase (G6PD) , Chatham mutation , PCR-RFLP method , Sequencing
Journal title :
Jorjani Biomedicine Journal
