چاپ صفحه |  صفحه نخست سامانه |  نویسندگان |  اطلاعات تفضیلی |  دانلود مقاله | دانشگاه علوم پزشکی تبریز |
| نویسنده ثبت کننده مقاله | لیلا واحدی |
| مرحله جاری مقاله | تایید نهایی |
| دانشکده/مرکز مربوطه | بیماری های گوارش و کبد |
| کد مقاله | 77549 |
| عنوان فارسی مقاله | Genetic variants of Cystic Fibrosis disease in Azeri Turkish population |
| عنوان لاتین مقاله | Genetic variants of Cystic Fibrosis disease in Azeri Turkish population |
| نوع ارائه | پوستر |
| عنوان کنگره / همایش | کنفرانس بین المللی ژنتیک و ژنومیکس انسانی |
| نوع کنگره / همایش | بین المللی |
| کشور محل برگزاری کنگره/ همایش | Iran (Islamic Republic) |
| شهر محل برگزاری کنگره/ همایش | Yazd |
| سال انتشار/ ارائه شمسی | 1400 |
| سال انتشار/ارائه میلادی | 2021 |
| تاریخ شمسی شروع و خاتمه کنگره/همایش | 1400/09/10 الی 1400/09/11 |
| آدرس لینک مقاله/ همایش در شبکه اینترنت | www.yazdgenetics.ir |
| آدرس علمی (Affiliation) نویسنده متقاضی | Liver and Gastrointestinal Diseases Research Center, Tabriz University of Medical Sciences, Tabriz, Iran |
| نویسنده | نفر چندم مقاله |
|---|---|
| امیر حسین جعفری روحی | اول |
| ماندانا رفیعی | دوم |
| سپیده یساری | سوم |
| لیلا واحدی | چهارم |
| عنوان | متن |
|---|---|
| کلمات کلیدی | Cystic fibrosis, CFTR, Variants, ∆F508, Spectrum |
| خلاصه مقاله | Background: Cystic fibrosis is the most common lethal autosomal recessive with more than 1,500 mutations and 300 polymorphisms. The aim of this study was to investigate the genetic variants in patients with cystic fibrosis disease in the Azeri Turkish population. Methods: In a descriptive study conducted for cystic fibrosis patients in the Azeri Turkish population in Iran from 2015 to 2020, the spectrum of cystic fibrosis transmembrane conductance regulator (CFTR) mutations was reviewed based on medical records. In some patient’s DNA testing has been carried out with standard kits that test only a limited number of common variants and others performed DNA analyses of the whole gene until the variants were identified. Results: Out of 262 patients, 36 known variants were identified when the ∆F508 (19.84%) was the most common mutation among patients. The variant of 1677delTA was observed in 3% of patients which was followed by variants of R334W, 2183AA->G, E92K, and G542X with frequency 5 (2.2%). The frequency of other variants was very low. Most variants were related to exons 8 and 11 and included for all 5 classes. Conclusion: These findings indicate a low frequency of the ∆F508 mutation and a heterogeneous spectrum of the mutations in this ethnic group. Therefore, many exons need to be examined to diagnose this disease. |
| نام فایل | تاریخ درج فایل | اندازه فایل | دانلود |
|---|---|---|---|
| CF Poster.pdf.pdf | 1400/09/15 | 684541 | دانلود |
| Poster Genetic variants.jpg | 1400/09/15 | 3210956 | دانلود |
