چاپ صفحه |  صفحه نخست سامانه |  چکیده مقاله |  نویسندگان |  دانلود مقاله | دانشگاه علوم پزشکی تبریز |
| نویسنده ثبت کننده مقاله | توحید قاسم نژاد |
| مرحله جاری مقاله | تایید نهایی |
| دانشکده/مرکز مربوطه | مرکز تحقیقات علوم اعصاب |
| کد مقاله | 62026 |
| عنوان فارسی مقاله | An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population |
| عنوان لاتین مقاله | An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population |
| ناشر | 5 |
| آیا مقاله از طرح تحقیقاتی و یا منتورشیپ استخراج شده است؟ | خیر |
| عنوان نشریه (خارج از لیست فوق) | |
| نوع مقاله | Review Article |
| نحوه ایندکس شدن مقاله | ایندکس شده سطح یک – ISI - Web of Science |
| آدرس لینک مقاله/ همایش در شبکه اینترنت | http://www.sciencedirect.com/science/article/pii/S0165587617301489 |
| Title: An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population Autosomal-recessive genes are responsible for about 80% of the hereditary non-syndromic hearing loss (NSHL) cases. In Iran, due to consanguineous marriages, NSHL is the second most frequent disability after intellectual disability, occurring one in 16 individuals. Enormous heterogeneity in the genetic pathology of hearing loss causes a major challenge in identification of responsible genes. In Iran, GJB2 is responsible for the most cases of pre-lingual and non-syndromic hearing loss (with frequency of 16.7%) which followed by other genes with lower frequency. Although several studies have indicated that a large proportion of both syndromic and non-syndromic hearing loss in Iranian populations are caused by defects in just a few genes, new detection strategies such as NGS (Next-generation sequencing) have increased the spectrum of responsible mutations. However, by applying this technique in Iran patients screening, the role of lots of novel related genes have been reported. In this review, we aim to describe function of these genes and their contribution to non-syndromic genetic hearing loss in Iranian population and we classify the genes by their functions |
| نویسنده | نفر چندم مقاله |
|---|---|
| محمود شکاری خانیانی | دوم |
| توحید قاسم نژاد | اول |
| سیما منصوری درخشان | چهارم |
| نام فایل | تاریخ درج فایل | اندازه فایل | دانلود |
|---|---|---|---|
| 1.pdf | 1396/10/06 | 270385 | دانلود |
| photo_2017-12-27_14-55-37.jpg | 1396/10/06 | 66086 | دانلود |
