相关实验视频

Updated: Jun 26, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

在自发流产中通过测序检测到的副本数变异的分析

Anhui Liu¹, Liyuan Zhou², Yazhou Huang³

¹Hengyang Medical School, University of South China, Hengyang, 421000, China.

Molecular cytogenetics

|May 19, 2024

概括

概念产物 (POC) 中的副本数变化 (CNV) 与自发流产 (SA) 有关. 这项研究确定了14个潜在的候选基因,包括LZTR1,TSHZ1和H4C3,可能导致胚胎致死性.

科学领域:

遗传学是一个遗传学.
生殖生物学生殖生物学
基因组医学是基因组医学.

背景情况:

自发流产 (SA) 影响15-20%的怀孕,遗传因素如复制数变异 (CNV) 有关.
不确定意义的CNVs (VOUS) 在SA中的作用仍然不清楚.
识别SA的遗传原因对于了解早期妊娠损失至关重要.

研究的目的:

调查受孕产物 (POC) 中的CNV与自发流产 (SA) 之间的相关性.
使用综合基因和表达数据识别与SA相关的潜在候选基因.
评估CNV测序 (CNV-seq) 在SA病例中检测染色体异常的有用性.

主要方法:

使用CNV测序 (CNV-seq) 对189例自发堕胎病例的分析.
基因本体学和信号通路丰富分析.
整合人类胎盘表达特征,PhyloP得分和残留变异不耐受性得分 (RVIS) 百分位来识别候选基因.

主要成果:

三体性16和单体性X是最常见的数值染色体异常.
最常见的CNV是在染色体4和8上发现的.
确定了14个潜在的候选基因,包括LZTR1,TSHZ1和H4C3,这些基因的变异可能会导致胚胎死亡.

结论:

CNV测序 (CNV-seq) 是有效的检测染色体异常在POCs.
这项研究确定了与自发流产相关的新型候选基因.
对这些候选基因的进一步研究可以阐明胚胎致死性机制.

关键词:

一个LZTR1一个LZTR1 候选基因是一个候选基因.副本数量的变化副本数量的变化自发流产是一种自发的流产.

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

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

相关概念视频

Comparing Copy Number Variations and SNPs

Comparing 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%...

Single Nucleotide Polymorphisms-SNPs

Single 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,...