相关实验视频

Updated: Sep 16, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

通过第三代测序识别在患者中发现一种新型复杂变异,该变异涉及α-环球蛋白基因集群

Hui Liu^1,2, Yepei Du^1,2, Yanting Yang^1,2

¹Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.

Annals of hematology

|July 12, 2025

概括

第三代测序 (TGS) 准确地检测出复杂的α-环球蛋白基因重组,包括重复和插入/删除,在患有血病的夫妇中. 与传统方法相比,TGS为罕见的基因型提供了优越的变异检测.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
血液学血液学血液学

背景情况:

血病检测通常使用诸如Gap-PCR,NGS,MLPA和qRT-PCR之类的方法.
这些方法难以准确地定义α-环球蛋白基因重组中的不平等交叉事件.
一对夫妇呈现出异常的血液学结果,促使基因调查.

研究的目的:

为了准确地描述一对异常血液学发现的夫妇中复杂的α-环球蛋白基因重组.
评估第三代测序 (TGS) 在检测罕见的基因型和α-环球蛋白基因集群的结构变异中的有效性.

主要方法:

下一代测序 (NGS) 用于初始分析.
差距聚合酶连锁反应 (Gap-PCR) 进行确认.
多重结合依赖探头放大 (MLPA) 和定量实时聚合酶连锁反应 (qRT-PCR) 用于复制数分析.
第三代测序 (TGS) 采用专门的原料,用于详细的结构阐明.
桑格测序用于验证.

主要成果:

NGS发现妻子的3.7kb删除和增加的副本数量 (约. 六) 在丈夫身上.
MLPA和qRT-PCR证实了丈夫的HBA1/HBA2基因拷贝数量很高.
在TGS中发现了四个3.7kb的双重复制和一个异合体c.301-31_301-24delinsG插入/删除 (InDel) 在丈夫的HBA1基因中.
在NGS分析中,还检测到了HBA1.1中的低水平异构InDel.

结论:

与传统方法相比,第三代测序 (TGS) 为检测复杂的α-环球蛋白基因变异和重组提供了更高的准确性.
TGS有效地识别了阿尔法环球蛋白基因集群中的罕见基因型和结构异常.
准确的遗传特征对于理解和管理血病至关重要.

关键词:

多个副本的α-环球蛋白基因集群.泰拉西米亚泰拉西米亚第三代测序系统是第三代测序系统.传统的方法传统的方法

更多相关视频

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

Novel Sequence Discovery by Subtractive Genomics

Novel Sequence Discovery by Subtractive Genomics

Published on: January 25, 2019

相关概念视频

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....

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Sanger Sequencing

Sanger Sequencing

DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...