Jorjani Biomedicine Journal
فصلنامه علمی پژوهشی زیست پزشکی جرجانی
Jorjani Biomed J
Medical Sciences
http://goums.ac.ir/jorjanijournal
1
admin
2645-3509
10.52547/jorjanibiomedj
en
jalali
1399
7
1
gregorian
2020
10
1
8
3
online
1
fulltext
en
Molecular Identification of G6PD Chatham (1003 G>A) in North-West Iran
علوم مولکولی
Molecular Sciences
تحقیقی
Original article
<div style="text-align: justify;"><strong><em>Background and objective</em></strong>: 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.<br>
<strong><em>Material And Method:</em></strong> 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 <em>Bstx1 </em>enzymes, in order to search for Chatham mutation, they were analyzed by means of PCR-RFLP and sequencing methods.<br>
<em><strong>Result:</strong></em> According to the results, Chatham mutation was observed in 10 samples (11.11%).<br>
<strong><em>Conclusion:</em></strong> 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.<br>
</div>
Glucose 6-phosphate dehydrogenase (G6PD),Chatham mutation,PCR-RFLP method,Sequencing,
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35
http://goums.ac.ir/jorjanijournal/browse.php?a_code=A-10-754-1&slc_lang=en&sid=1
Habib
Onsori
onsori1356@yahoo.com
10031947532846005996
10031947532846005996
No
Cellular and Molecular Biology Department, Marand Branch, Islamic Azad University, Marand, Iran
Davood
Poladi
mehdi.valizadeh20@gmail.com
10031947532846005997
10031947532846005997
No
Department Genetics, Ahar Branch, Islamic Azad University, Ahar, Iran
Mehdi
Valizadeh
mehdi_valizadeh65@yahoo.com
10031947532846005998
10031947532846005998
Yes
Unit of Genomics Research, Digestive Diseases Research Center, Ardabil University of Medical Sciences, Ardabil, Iran
Afshin
Fathi
a.fathi@arums.ac.ir
10031947532846005999
10031947532846005999
No
Pediatric Hematology & Oncology Department, Ardabil University of Medical Sciences, Ardabil, Iran
Mahshid
Damandan
m.damandan@yahoo.com
10031947532846006000
10031947532846006000
No
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, Iran
Rouhallah
Moradpour
moradpoormehran@ymail.com
10031947532846006001
10031947532846006001
No
Cellular and Molecular Research Center, School of Medicine, Ardabil University of Medical Sciences, Ardabil, Iran/Center for Cell Pathology Research, Department of Life Science, Khazar University, Baku, Azerbaijan