PDF(Sci-hub)
Abstract：
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.
摘要：
唐氏综合症（DS）是一种遗传性疾病，由于在肢端中心区域的G组中21号染色体中存在三体性而出现。DS也被称为非孟德尔遗传，由于缺乏孟德尔的法律。儿童疾病是通过临床症状和染色体分析确定的，到目前为止还没有生化和分子分析。目前,全外显子组测序(WES)在鉴定新的致病基因方面做出了很大贡献,代表了人类遗传学领域的重大突破,这项技术使用高通量测序技术来确定指定个体基因组蛋白质编码区的DNA碱基对的排列.除此之外，下一代测序和全基因组测序也有助于识别疾病标记。从这篇评论来看，建议进行WES是DS儿童识别标记区域。
