相关实验视频

Updated: Jul 2, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

通过CNV-Seq识别流产中的染色体异常

Yuqi Shao^1,2,3, Saisai Yang^1,2,3, Lin Cheng^1,2,3

¹Department of Obstetrics, Zhongnan Hospital of Wuhan University, Wuhan, 430071, China.

Molecular cytogenetics

|February 18, 2024

概括

复制数变异测序 (CNV-Seq) 在超过60%的流产中发现了染色体异常. 涉及TP53和UBE3A等关键基因,为未来怀孕健康提供了洞察力.

科学领域:

遗传学是一个遗传学.
生殖生物学生殖生物学
生物信息学是一种生物信息学.

背景情况:

经常性流产是生殖健康的一个重大问题.
了解流产的遗传基础对于改善结果至关重要.
副本数变异 (CNVs) 越来越多地被认为是导致怀孕流产的原因.

研究的目的:

通过复制数变异测序 (CNV-Seq) 来分析流产中的染色体异常.
识别与流产相关的潜在基因和途径.
根据遗传发现,为随后的怀孕提供指导.

主要方法:

登记了580例流产病例,包括临床数据和CNV-Seq结果.
对验证的致病性CNV (pCNV) 进行了生物信息分析.
利用了基因和基因组通路和基因本体学分析的京都百科全书.

主要成果:

在577个可评估病例中观察到染色体异常的阳性检测率为61.87%.
在357例病例中发现了470种变异,其中65.32%被归类为致病性.
数值异常随着母亲的年龄增加而增加,而结构异常则减少;TP53,CTNNB1,UBE3A,EP300,SOX2,ATM和MECP2被突出显示为潜在的重要基因.

结论:

染色体异常,包括微切除和重复,是流产的重要原因.
已识别的致病性CNV和相关基因为了解流产病因提供了基础.
这些发现为未来怀孕中产妇健康提供了潜在的指导.

关键词:

在CNV-Seqq中使用.染色体异常是一种染色体异常.副本编号变体的变体流产流产流产

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

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis

Published on: September 7, 2021

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%...