相关实验视频

Updated: May 26, 2025

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System

Published on: May 5, 2018

解读先天性心脏病的基因架构,使用trio exome测序数据

Meltem Ece Kars¹, David Stein², Peter D Stenson³

¹The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

American journal of human genetics

|February 21, 2025

概括

研究基因相互作用,基因变异的对,有助于发现先天性心脏病 (CHD) 的新原因. 这项研究确定了10个潜在的潜在的CHD基因对,改善了分子诊断率.

科学领域:

遗传学遗传学是一个
发展生物学发展生物学
医学研究医学研究

背景情况:

先天性心脏病 (CHD) 是婴儿死亡的主要原因,遗传因素往往未被确定.
单一的原因仅解释了一部分心血管疾病病例,使许多人没有分子诊断.
寡基因相互作用,特别是二基因遗传,是冠状动脉疾病遗传学中尚未探索的领域.

研究的目的:

调查二基因相互作用在先天性心脏病病发病的作用.
通过使用高通量测序数据,识别导致心脏病的新型基因对.
为了提高先天性心脏病的分子诊断率.

主要方法:

对一大群先天性心脏病 (CHD) 三元外体序列数据的分析 (3,910 CHD 三元, 3,644 控制三元).
在受影响和未受影响的儿童中提取和负荷测试罕见变异对,父母缺席.
使用网络分析,生物距离和基因表达数据,对候选基因对进行优先排序.

主要成果:

鉴定了与心脏病相关的29个名义上显著的基因对.
显著丰富已识别的基因对与已知的CHD基因和更短的生物距离.
优先考虑在发育中的胚胎心脏中高度表达的10个基因对,可能会导致心脏病.

结论:

基因相互作用在先天性心脏病的发病过程中发挥着潜在的作用.
这种digenic方法为以前未解决的CHD分子诊断提供了洞察力.
将基因分析应用于其他疾病队列可以显著增加遗传发现.

关键词:

生物学上的亲近性.遗传性心脏病是一种先天性心脏病.二基因相互作用的相互作用.丰富分析是一种丰富分析.三元外基因组测序三元外基因组测序

更多相关视频

A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse

A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse

Published on: December 16, 2022

Author Spotlight: Nuclei Isolation from Mouse Cardiac Progenitor Cells for Epigenome and Gene Expression Profiling at Single-Cell Resolution

Author Spotlight: Nuclei Isolation from Mouse Cardiac Progenitor Cells for Epigenome and Gene Expression Profiling at Single-Cell Resolution

Published on: May 12, 2023

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....

Animal Mitochondrial Genetics

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...

Genomics

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...

Human Genetics

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...