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Iranian Journal of Psychiatry، جلد ۱۲، شماره ۳، صفحات ۲۱۹-۲۲۲
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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 |
Report a Novel Mutation in Human Prostacyclin Receptor Gene in patient affected with Migraine |
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| چکیده انگلیسی مقاله |
Objective: The human prostacyclin receptor gene (PTGIR) encodes the human prostacyclin (PGI2) receptor. PTGIR is a part of vasodilator system during the migraine attacks and probably has an important role in the mechanism of this disease. Materials and Methods: We used direct PCR and sequencing to determine the any variants in PTGIR gene. A blood sample was collected from the patients and genomic DNA was extracted. Polymerase chain reaction was carried out on extracted DNA. The PCR products were then sequenced using a cycle sequencing kit, on an automated DNA sequencing machine . Results: In reviewing of familial and clinopathological of these two patients, both patients have migraines with visual aura and their mothers also are suffering from migraines. Their parents had been married strangers. Direct sequencing analysis of exon 2 of the PTGIR gene showing the presence of two mutations in two patients. These mutations were heterozygote that made the following changes; g.1626T>A, c.754T>A, cDNA.867T>A, and p.S252T for the first mutation and c.753C>T, cDNA866C>T, g.1625C>T, p.C251C for the second mutation. The first mutation alters the amino acid and is a novel mutation. The second change is a conservative mutation that have already been reported. Conclusion: The prediction results predicted the variant would negatively affect the protein’s function and seems to be disease causing. Although functional analysis is required to confirm the association between the variant and the disease. |
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| کلیدواژه‌های انگلیسی مقاله |
Migraine,Mutation,Prostacyclin Receptor Gene |
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| نویسندگان مقاله |
مجید خیرالهی | majid kheirollahi
isfahan university of medical sciences, isfahan, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی اصفهان (Isfahan university of medical sciences)
محمد رضا پوررضا | mohammad reza pourreza
isfahan university of medical sciences, isfahan, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی اصفهان (Isfahan university of medical sciences)
فریبرز خوروش | fariborz khorvash
isfahan university of medical sciences, isfahan, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی اصفهان (Isfahan university of medical sciences)
محمدکاظمی | mohammad kazemi
isfahan university of medical sciences, isfahan, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی اصفهان (Isfahan university of medical sciences)
گیلدا امینی | gilda amini
isfahan university of medical sciences, isfahan, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی اصفهان (Isfahan university of medical sciences)
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| نشانی اینترنتی |
http://ijps.tums.ac.ir/index.php/ijps/article/view/843 |
| فایل مقاله |
اشکال در دسترسی به فایل - ./files/site1/rds_journals/64/article-64-413208.pdf |
| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
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| نوع مقاله منتشر شده |
Case Report(s) |
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