Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
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 JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Karyotyping01:17

Karyotyping

60.4K
Overview
60.4K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

34.4K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.4K
Human Genetics01:28

Human Genetics

569
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...
569
Genome Copying Errors02:46

Genome Copying Errors

4.2K
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
4.2K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

7.6K
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...
7.6K
Genetic Lingo01:11

Genetic Lingo

102.8K
Overview
102.8K

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

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Phenotype-specific muscle proteomic profiling in titinopathies.

Acta neuropathologica communications·2026
Same author

Learning a distance for the clustering of patients with amyotrophic lateral sclerosis.

BioData mining·2026
Same author

Recurrent hemophagocytic lymphohistiocytosis in COG deficiency: a case series and systematic review of inflammatory manifestations.

Molecular genetics and metabolism·2026
Same author

Reversible & Microbubble Concentration-Dependent Permeabilization of an <i>In Vitro</i> Human Endothelial Barrier to Small Molecules Using Ultrasound: Implications for Neurodegenerative Diseases Therapy.

Molecular pharmaceutics·2026
Same author

Anchoring ALS Prognosis: Neurofilament Light Chain Outperforms Inflammatory, Metabolic, and CNS Barrier Biomarkers in the METABALS Cohort.

Molecular neurobiology·2026

相关实验视频

Updated: Jul 2, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.6K

甜蜜的结局:当遗传学阻止一个戏剧性的CDG诊断错误时

Antoine Civit1, Paul Gueguen2, Helene Blasco3

  • 1Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.

Clinica chimica acta; international journal of clinical chemistry
|February 20, 2024
PubMed
概括

遗传性果糖不耐症 (HFI) 可以模仿新生儿的其他代谢障碍. 早期的基因检测对于准确的诊断和改善结果至关重要,特别是当婴儿出现严重症状时,如肝炎和水头.

关键词:
这是CDG的CDG.葡萄糖化先天性疾病.果糖血症是什么 果糖血症是什么充血性肝炎是一种充血性肝炎.遗传性果糖不耐症,果糖血症等.

更多相关视频

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.6K
FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

36.8K

相关实验视频

Last Updated: Jul 2, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.6K
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.6K
FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

36.8K

科学领域:

  • 生物化学 生物化学
  • 遗传学 遗传学 是一个
  • 儿科 儿科 儿科

背景情况:

  • 新生儿出现无法解释的严重症状,会给诊断带来挑战.
  • 在这种情况下,通常会考虑先天性糖化化 (CDG) 障碍.
  • 遗传性果糖不耐症 (HFI) 是一种罕见的遗传性代谢障碍.

研究的目的:

  • 调查新生儿严重多系统性疾病的根本原因.
  • 突出诊断挑战和遗传代谢障碍中基因分析的重要性.

主要方法:

  • 毛细管电泳和血清转激素的西部斑点用于CDG查.
  • 三重整体外组测序以确定遗传原因.
  • 在饮食干预后的临床随访.

主要成果:

  • CDG查表明曼诺-酸盐异构酶缺乏 (MPI-CDG).
  • 整体外基因组测序在ALDOB中发现了同卵性致病变体,证实了遗传性果糖不耐受 (HFI).
  • 在从饮食中去除果糖后,婴儿表现出极好的发育.

结论:

  • 遗传性果糖不耐症 (HFI) 可以呈现出严重的,可能致命的症状,模仿其他代谢障碍,特别是当果糖无意中被引入饮食时.
  • 早期遗传诊断对于准确的预后和有效管理HFI至关重要.
  • 临床医生,生物化学家和遗传学家之间的综合合作对于诊断复杂的儿科代谢病例至关重要.