کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8849859 1618658 2018 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Analysis of Downs syndrome with molecular techniques for future diagnoses
ترجمه فارسی عنوان
تجزیه و تحلیل سندرم داون با تکنیک های مولکولی برای تشخیص های آینده
موضوعات مرتبط
علوم زیستی و بیوفناوری علوم محیط زیست بوم شناسی
چکیده انگلیسی
Down syndrome (DS) is a genetic disorder appeared due to the presence of trisomy in chromosome 21 in the G-group of the acrocentric region. DS is also known as non-Mendelian inheritance, due to the lack of Mendel's laws. The disorder in children is identified through clinical symptoms and chromosomal analysis and till now there are no biochemical and molecular analyses. Presently, whole exome sequencing (WES) has largely contributed in identifying the new disease-causing genes and represented a significant breakthrough in the field of human genetics and this technique uses high throughput sequencing technologies to determine the arrangement of DNA base pairs specifying the protein coding regions of an individual's genome. Apart from this next generation sequencing and whole genome sequencing also contribute for identifying the disease marker. From this review, the suggestion was to perform the WES is DS children to identify the marker region.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Saudi Journal of Biological Sciences - Volume 25, Issue 3, March 2018, Pages 558-562
نویسندگان
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