کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6462319 1421975 2017 10 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Ion channelopathies associated genetic variants as the culprit for sudden unexplained death
ترجمه فارسی عنوان
گونه های ژنتیکی مربوط به کانون پاتای یون به عنوان مقصر مرگ ناگهانی ناشناخته است
کلمات کلیدی
مرگ ناگهانی ناشناخته، کانالوپاتی قلب و مغز، جهش نادر، پلی مورفیسم، تشخیص ژنتیکی،
موضوعات مرتبط
مهندسی و علوم پایه شیمی شیمی آنالیزی یا شیمی تجزیه
چکیده انگلیسی


- A general view of ion channel genes and their genetic variants associated with SUD.
- A summary of the ion channelopathies and the underlying genetic mechanisms.
- Genetic diagnosis of SUD victims and their relatives is strongly recommended.

Forensic identification of sudden unexplained death (SUD) has always been a ticklish issue because it used to be defined as sudden death without a conclusive diagnosis after autopsy. However, benefiting from the developments in genome research, a growing body of evidence points to the importance of ion channelopathies associated genetic variants in the pathogenesis of SUD. Genetic diagnosis of the deceased is also a new trend in epidemiological studies, for it enables the undertaking for preventive approach in individuals with high risks. In this review, we briefly discuss the molecular structure of ion channels and the role of genetic variants in regulating their functions as well as the diverse mechanisms underlying the ion channelopathies at gene level.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Forensic Science International - Volume 275, June 2017, Pages 128-137
نویسندگان
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