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

Chromosomal Theory of Inheritance01:39

Chromosomal Theory of Inheritance

43.7K
In 1866, Gregor Mendel published the results of his pea plant breeding experiments, providing evidence for predictable patterns in the inheritance of physical characteristics. The significance of his findings was not immediately recognized. In fact, the existence of genes was unknown at the time. Mendel referred to hereditary units as “factors.”
43.7K
Genetics of Speciation02:16

Genetics of Speciation

19.0K
Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.
19.0K
Incomplete Dominance01:43

Incomplete Dominance

19.2K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
19.2K
Exon Recombination02:32

Exon Recombination

3.1K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
3.1K
Complementation Tests00:49

Complementation Tests

4.9K
A complementation test is a simple cross to identify whether the two mutations are located on the same gene or different genes. It was first performed by Edward Lewis in the 1940s while working on fruit flies. He developed the test to identify the location and arrangement of different mutations on chromosomes.
Organisms heterozygous for different mutations are crossed pairwise in all combinations. If present on different genes, the mutations can complement each other by providing the missing...
4.9K
Epistasis Analysis01:09

Epistasis Analysis

4.9K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
4.9K

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

Lungs in Crisis: Exploring the Complexity and Management of Pulmonary Hemorrhage in Premature Neonates.

Neonatal network : NN·2026
Same author

Pulmonary Hypoplasia From Prolonged Prelabor Rupture of Membranes: A Case Report.

Neonatal network : NN·2026
Same author

Interrupted Aortic Arch: Navigating Diagnosis, Management, and Beyond.

Neonatal network : NN·2025
Same author

Anemia of Prematurity in an ELBW Neonate of Jehovah's Witness Parents.

Neonatal network : NN·2025
Same author

Biliary Atresia Splenic Malformation: A Case Study.

Neonatal network : NN·2025
Same author

Supporting Infants with Multicystic Dysplastic Kidney Disease: A Comprehensive Approach.

Neonatal network : NN·2024
Same journal

A Quality Improvement Project to Increase Breastfeeding Rates in the NICU.

Neonatal network : NN·2026
Same journal

Parental Advocacy in the NICU: A Unique Case of Infant Hypoglycemia Highlighting the Role of the Family in Improving Outcomes.

Neonatal network : NN·2026
Same journal

Enteral Iron Supplementation.

Neonatal network : NN·2026
Same journal

Enjoyment in Preterm Infants: Exploring Clinical and Research Perspectives in the Neonatal Intensive Care Unit.

Neonatal network : NN·2026
Same journal

Building the Future Neonatal Nurse Practitioner Workforce: Reviewing Barriers and Strategies to Enrollment.

Neonatal network : NN·2026
Same journal

What Does It Mean to Be a Professional?

Neonatal network : NN·2026
查看所有相关文章

相关实验视频

Updated: May 6, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.8K

遗传学综述:朱伯特综合征的发生

Audrey M Tran1, Amy J Jnah2, Mauricio J De Castro Pretelt2

  • 1College of Nursing, East Carolina University, Greenville, NC, USA tranau23@students.ecu.edu.

Neonatal network : NN
|June 19, 2025
PubMed
概括
此摘要是机器生成的。

朱伯特综合征 (JS) 是一种罕见的神经发育障碍,影响婴儿. 这篇评论详细介绍了它的遗传学,症状,诊断和管理,强调早期识别以获得更好的护理.

关键词:
朱伯特综合征是什么?朱伯特综合征是什么?临床表现的临床表现.遗传学 遗传学 遗传学 遗传学 是一个继承权是一种继承权.牙的标志是牙的标志.新生儿新生儿新生儿新生儿患病率的流行情况.

更多相关视频

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.9K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.8K

相关实验视频

Last Updated: May 6, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.8K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.9K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.8K

科学领域:

  • 遗传学和发育生物学
  • 儿科神经学 儿科神经学
  • 医学遗传学 医学遗传学

背景情况:

  • 朱伯特综合征 (JS) 是一种罕见的,遗传性神经发育障碍,每8万至10万名婴儿中约有1例会发生.
  • 它被归类为多系统纤毛病,由于遗传突变影响纤毛功能,影响了发育.
  • 经典的诊断指标包括在大脑成像上特有的"牙"标志.

研究的目的:

  • 提供对朱伯特综合征的全面概述.
  • 巩固当前关于JS遗传学,病理生理学,临床特征,诊断和管理策略的知识.
  • 突出早期诊断和专家咨询对于优化患者护理的重要性.

主要方法:

  • 对朱伯特综合征当前研究的文献综述.
  • 综合有关遗传关联,临床表现和诊断方法的信息.
  • 包括一个专门从事JS的儿科遗传学家的专家见解.

主要成果:

  • 目前有超过30个基因与JS有关,突变会在胚胎发育过程中破坏状腺功能.
  • 结核病表现为影响多个器官系统的广泛的症状和病理.
  • 早期识别和准确的分子诊断对于有效的管理和改善结果至关重要.

结论:

  • 朱伯特综合征是一种复杂的纤毛病,需要多学科的诊断和护理方法.
  • 基因检测的进步正在改善JS的诊断能力.
  • 及时干预和专业护理对于管理JS患者面临的各种挑战至关重要.