相关实验视频
Updated: Jul 21, 2026
09:45
Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
11.7K
长读序列识别了一种常见的转换单元型,该单元型具有CLCNKB删除的倾向性
Nikolai Tschernoster1,2,3, Florian Erger2,3, Stefan Kohl4
1Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
Genome medicine
|August 23, 2023
概括
一种常见的遗传单元型使个体易患CLCNKB基因的大缺失,导致巴特综合征3型. 这一发现扩大了已知的CLCNKB删除等位基因谱,并提出了新的诊断方法.
科学领域:
- 基因组学就是基因组学.
- 人类遗传学 人类遗传学
- 分子生物学分子生物学
背景情况:
- 巴特特综合征3型 (BS3) 是一种遗传疾病,由CLCNKB基因的变异引起,通常是很大的缺失.
- 目前的诊断方法可能无法完全描述BS 3患者的复杂重组.
- 结构变异,特别是在重复的区域,可能是具有挑战性的检测和分析.
研究的目的:
- 研究与巴特综合征3型患者中CLCNKB缺失相关的精确断点区域和基因组结构.
- 识别导致疾病的新型遗传变异和结构重组.
- 探索常见的遗传单元类型在CLCNKB缺失的发生中的作用.
主要方法:
- 采用长读序列,合成长读序列和向长读序列.
- 在32名BS3患者和1名BS4b患者中分析了CLCNKB缺失的结构变异.
- 研究了精确的断点区域和基因组结构以进行详细分析.
主要成果:
- 确定了转移到CLCNKA基因的3'-UTR CLCNKB材料的~3 kb重复,存在于健康对照组中,并在患者中显著丰富.
- 描述了八种不同的CLCNKB删除等位基因,包括复杂的重组和CLCNKA/CLCNKB杂交基因.
- 在32名BS3患者和1名BS4b患者中确认了CLCNKB删除,并进行了详细的断点分析.
结论:
- 一个常见的序列转换单元型与CLCNKB删除相关,并且可能会导致CLCNKB删除,从而扩大已知的致病单元谱.
- 这些发现表明,在特定热点的多个独立反复发生的基因组事件有助于CLCNKB删除.
- 提出一种使用间接序列捕获和长读序列分析结构变异热点的灵敏,成本高效的方法.
相关概念视频
02:13Overview of Transposition and Recombination
Transposons make up a significant part of genomes of various organisms. Therefore, it is believed that transposition played a major evolutionary role in speciation by changing genome sizes and modifying gene expression patterns. For example, in bacteria, transposition can lead to conferring antibiotic resistance. Movement of transposable elements within the genetic pool of pathogenic bacteria can aid in transfer of antibiotic-resistant genetic elements. In eukaryotes, transposons can carry out...
03:18Non-LTR Retrotransposons
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...