چاپ صفحه |  صفحه نخست سامانه |  چکیده مقاله |  نویسندگان |  دانلود مقاله | دانشگاه علوم پزشکی تبریز |
| نویسنده ثبت کننده مقاله | ابوالفضل پورحسن مرزرود |
| مرحله جاری مقاله | تایید نهایی |
| دانشکده/مرکز مربوطه | دانشکده پزشکی |
| کد مقاله | 58121 |
| عنوان فارسی مقاله | MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever |
| عنوان لاتین مقاله | MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever |
| ناشر | 12 |
| آیا مقاله از طرح تحقیقاتی و یا منتورشیپ استخراج شده است؟ | |
| عنوان نشریه (خارج از لیست فوق) | |
| نوع مقاله | Short Report |
| نحوه ایندکس شدن مقاله | ایندکس شده سطح یک – ISI - Web of Science |
| آدرس لینک مقاله/ همایش در شبکه اینترنت | Clinical Genetics website |
| Bonyadi M, Esmaeili M, Jalali H, Somi MH, Ghaffari A, Rafeey M, Sakha K, Lotfalizadeh N, Pourhassan A, Khoshbaten M, Ardalan MR, Laghaeian N. MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever. Clin Genet 2009: 76: 477–480. © John Wiley & Sons A/S, 2009 Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder with more than 60 disease-associated mutations in the responsible gene, MEFV. In the present study, we determined 15 MEFV mutations in Iranian Azeri Turkish FMF patients. Five hundred and twenty-four unrelated patients were tested for 15 known mutations in the MEFV gene using amplification refractory mutation system-polymerase chain reaction and polymerase chain reaction-restriction fragment length polymorphism methods. Thirty-five different genotypes were characterized among the studied patients. Of the alleles investigated, the most common mutation was p.M694V (42.4%), followed by p.V726A (17%), p.E148Q (16.2%), and p.M680I (c.2040G>C) (15.2%). The p.R761H mutation (4.7%) was found to be the most frequent among the rare mutations. The mutations p.M680I (c.2040G>A), p.I692del, p.M694del and p.K695R were not found in this cohort. The remaining mutations account for 7.7% of the identifiable mutations. Five different types of complex alleles were also identified. The results show the diversity and the frequency of the mutations in the Iranian Azeri Turkish FMF patients. The p.R761H mutation is rather prevalent in Azeri Turks; therefore, it should be included in the routine molecular diagnosis of FMF patients from this ethnic group |
| نویسنده | نفر چندم مقاله |
|---|---|
| ابوالفضل پورحسن مرزرود | نهم |
| نام فایل | تاریخ درج فایل | اندازه فایل | دانلود |
|---|---|---|---|
| MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.pdf | 1395/03/26 | 466835 | دانلود |
