相关实验视频

Updated: Jul 4, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

基于下一代测序的扩展载体查对严重的单一性遗传疾病的有效性

Xue Zhang¹, Qian Chen¹, Junnan Li¹

¹Department of Obstetrics, The First Affiliated Hospital of Chongqing Medical University, No. 1, Youyi Road, Yuanjiagang, Yuzhong District, Chongqing, 400016, People's Republic of China.

|January 31, 2024

概括

扩展载体查 (ECS) 有效地识别了中国人口中单遗传性疾病的载体. 这项研究强调了ECS在通过家族查计划预防严重遗传疾病方面的临床意义.

科学领域:

遗传学遗传学是一个
生殖健康生殖健康
基因组医学是基因组医学.

背景情况:

使用下一代测序的扩展载体查 (ECS) 对于识别遗传疾病风险至关重要.
很少有研究在中国人群中评估了ECS的有效性.
了解载体频率对于遗传咨询和生殖规划至关重要.

研究的目的:

在中国人群中评估ECS的有效性和临床实用性.
为了确定155种单遗传性疾病的载体率.
评估对家族查和疾病预防的影响.

主要方法:

分析了来自中国西南地区的3737名个人 (1048对夫妇,1641个人) 使用ECS.
采用了ECS面板,涵盖147个基因和10,449个变异,用于145种自身逆性和10种X链接的逆性疾病.
计算载体频率和确定风险对.

主要成果:

43.27%的人至少携带一种单遗传性疾病.
74.81%的夫妇至少有一个伴侣携带多种疾病突变.
5.34%的风险夫妇对相同的自体逆向性疾病具有异合性;0.37%的女性携带X相关疾病.

结论:

在中国人群中,ECS在确定遗传载体身份方面具有显著的临床价值.
结果强调了实施家庭查计划的必要性,以预防严重的衰退性单遗传疾病.
在中国,ECS为遗传咨询和知情的生殖决策提供了必要的数据.

关键词:

扩展的选载体扩展的选载体单基因遗传疾病单基因遗传疾病这是下一代测序.

更多相关视频

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

相关概念视频

Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...

Next-generation Sequencing

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....