چکیده مقاله
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 diseasecausing 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
کلیدواژهها
نویسندگان
شیوه ارجاع
Shabannejadian, Forough,1400,Efficacy of molecular techniques in Down syndrome analysis for future diagnosis,Eleventh International Conference on Innovation and Research in Engineering Sciences
ارائهشده در
مجموعه مقالات یازدهمین کنفرانس بین المللی نوآوری و تحقیق در علوم مهندسی19 اسفند 1400