Search research articles

关于 JoVE

概览领导团队博客 JoVE 帮助中心

作者

出版流程编辑委员会范围与政策同行评审常见问题投稿

图书馆员

用户评价订阅访问资源图书馆顾问委员会常见问题

研究

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments 存档

教育

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual 教师资源中心教师网站

使用条款与条件

相关概念视频

DNA Microarrays

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...

Karyotyping

Karyotyping

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序

Same author

Assessing concordance of genetic parameters between trophectoderm and inner cell mass in morphologically scored day-5 embryos via NGS.

Reproduction & fertility·2026

Same author

Sleep-Disordered Breathing in Chung-Jansen Syndrome.

International journal of molecular sciences·2026

Same author

The genetic background of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A systematic review.

Best practice & research. Clinical obstetrics & gynaecology·2026

Same author

Author Correction: The genetic architecture of Parkinson's disease on the Island of Crete.

NPJ Parkinson's disease·2026

Same author

ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis).

European journal of human genetics : EJHG·2026

Same author

The genetic architecture of Parkinson's disease on the Island of Crete.

NPJ Parkinson's disease·2025

Search research articles

相关实验视频

Updated: Jul 18, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

产前染色体微阵列分析:提高分辨率是否等同于提高产量?

Anastasios Mitrakos¹, Konstantina Kosma¹, Periklis Makrythanasis¹

¹Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, 11527 Athens, Greece.

|August 26, 2023

概括

此摘要是机器生成的。

在产前诊断中,高分辨率染色体微阵列分析 (CMA) 能够有效地检测与发育问题相关的较小拷贝数变异 (CNV). 这种先进的测试增加了诊断产量,具有不确定的意义 (VUS) 的最小变异.

关键词:

aCGH 的意思是ACGH.胚胎液是什么意思胚胎液是什么意思阵列比较的基因组杂交.胆 ?? 状皮是什么意思产前诊断在产前诊断.

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

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

相关实验视频

Last Updated: Jul 18, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

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

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

科学领域:

遗传学是一个遗传学.
产前诊断在产前诊断
基因组医学是基因组医学.

背景情况:

染色体微阵列分析 (CMA) 是发育障碍和先天异常的主要诊断工具.
目前产前CMA指南使用尺寸切断 (200-400Kb) 来减少不确定的意义 (VUS) 的变异.
关于在产前环境中使用高分辨率CMA平台的数据有限.

研究的目的:

评估高分辨率CMA在产前诊断中的可行性和影响.
为了评估诊断产量和检测较小的副本数变体 (CNVs),使用较小的尺寸切断.

主要方法:

应用CMA与20Kb大小切断到250个产前样本.
分析检测到的染色体异常,将其分类为致病性 (P),可能致病性 (LP) 或VUS.
对VUS病例进行了跟踪,并报告了检测到的最小异常.

主要成果:

19.6%的样本显示染色体异常;15.6%是P/LP和4%是VUS.
除了家族异常外,诊断收益率为12%.
检测到的最小的CNV是16p11.2区域中的32Kb重复.

结论:

高分辨率的CMA可靠地检测出在产前环境中与神经发育表型相关的较小的CNV.
这种方法提供了一个增加的诊断产量,无论测试指示.
静脉硬化症的发病率仍然略有增加,这使得高分辨率的CMA成为一种有价值的产前诊断工具.