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Iranian Journal of Medical Sciences، جلد ۳۶، شماره ۱، صفحات ۴۰-۰
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Molecular Characterization of Cosenza Mutation among Patients with Glucose-6-Phosphate Dehydrogenase Deficiency in Khuzestan Province, Southwest Iran |
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| چکیده انگلیسی مقاله |
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common hereditary enzymatic disorders in human, increases the vulnerability of erythrocytes to oxidative stress. It is also characterized by remarkable molecular and biochemical heterogeneity. According to previous investigations, G6PD Cosenza (G1376C) is a common G6PD mutation in some parts of Iran. Therefore in the present study we have characterized Cosenza mutation among G6PD deficient individuals in Khuzestan province. In order to identify G6PD Cosenza, we analyzed the G6PD gene in 64 samples out of 231 deficient individuals who had not G6PD Mediterranean mutation, using PCR- restriction fragment length polymorphism (RFLP) method. G6PD Cosenza mutation was found in 6 males of 231 samples, resulting in the relative rate of 2.6% and allele frequency of 0.023 among Khuzestanian G6PD deficient subjects. A comparison of these results with previous findings in some parts of Iran suggests that G6PD Cosenza is a common mutation in Khuzestanian G6PD deficient individuals. |
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| کلیدواژه‌های انگلیسی مقاله |
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| نویسندگان مقاله |
سید رضا کاظمی نژاد | seyed reza kazemi nezhad
department of genetics, faculty of science, shahid chamran university of ahvaz, ahvaz, iran
سازمان اصلی تایید شده: دانشگاه شهید چمران (Shahid chamran university)
فاطمه فهمی | fatemeh fahmi
department of genetics, faculty of science, shahid chamran university of ahvaz, ahvaz, iran
سازمان اصلی تایید شده: دانشگاه شهید چمران (Shahid chamran university)
سعید رضا خاتمی | saeid reza khatami
department of genetics, faculty of science, shahid chamran university of ahvaz, ahvaz, iran
سازمان اصلی تایید شده: دانشگاه شهید چمران (Shahid chamran university)
محسن musaviun | mohsen musaviun
department of genetics, faculty of science, shahid chamran university of ahvaz, ahvaz, iran
سازمان اصلی تایید شده: دانشگاه شهید چمران (Shahid chamran university)
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| نشانی اینترنتی |
http://ijms.sums.ac.ir/index.php/IJMS/article/view/731 |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
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| نوع مقاله منتشر شده |
Brief Report(s) |
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