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相关概念视频

Lethal Alleles02:41

Lethal Alleles

15.4K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.4K
Incomplete Dominance01:43

Incomplete Dominance

22.6K
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.
22.6K
Pedigree Analysis01:35

Pedigree Analysis

84.3K
Overview
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Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Law of Segregation01:49

Law of Segregation

66.0K
When crossing pea plants, Mendel noticed that one of the parental traits would sometimes disappear in the first generation of offspring, called the F1 generation, and could reappear in the next generation (F2). He concluded that one of the traits must be dominant over the other, thereby causing masking of one trait in the F1 generation. When he crossed the F1 plants, he found that 75% of the offspring in the F2 generation had the dominant phenotype, while 25% had the recessive phenotype.
66.0K
X-linked Traits01:19

X-linked Traits

54.9K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
54.9K

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相关实验视频

Updated: Jul 5, 2025

Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing
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门德尔障碍中的致命表型

Pilar Cacheiro1, Samantha Lawson2, Ignatia B Van den Veyver3,4

  • 1William Harvey Research Institute, Queen Mary University of London, London, UK.

medRxiv : the preprint server for health sciences
|January 23, 2024
PubMed
概括
此摘要是机器生成的。

这项研究基于OMIM的致死性数据对人类基本基因进行了分类,创造了一个新的资源,以帮助诊断早期致死性疾病并了解基因基本性.

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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相关实验视频

Last Updated: Jul 5, 2025

Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing
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Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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科学领域:

  • 遗传学和基因组学 遗传学和基因组学
  • 人类遗传学 人类遗传学
  • 发展生物学 发展生物学

背景情况:

  • 基本基因对细胞增殖和生物体生存至关重要,但它们的基本性存在于光谱上.
  • 目前的资源通过增殖,生存能力和人口变异数据来评估基因基本性.
  • 临床数据,特别是致命性,为表征基因本质性提供了一个新的途径.

研究的目的:

  • 根据致命性,编制一个全面的人类基本基因目录.
  • 开发一个门户探索基因基本性,约束指标和跨物种生存能力.
  • 研究致死性类别,遗传模式,受影响的系统和疾病类别之间的关系.

主要方法:

  • 在线Mendelian Inheritance in Man (OMIM) 数据库中查询与致死性相关的术语.
  • 将孟德尔基因分类为基于最早记录的相关疾病死亡年龄的类别.
  • 开发了Lethal Phenotypes门户,以展示精选的数据并探索基因关系.

主要成果:

  • 基于从产前死亡到没有过早死亡的致死性谱的人类基本基因的新分类成立.
  • 致死性表型门户网站将致死性数据与约束指标和跨物种生存能力相结合.
  • 分析揭示了不同的遗传模式,受影响的生理系统,以及死亡率类别内的疾病类别.
  • 表型相似性和基因家族信息可以促进新型疾病基因的发现.

结论:

  • 致命的表型门户网站为诊断早期致命的人类疾病提供了宝贵的资源.
  • 通过死亡率数据了解基因基本性,有助于研究人员调查关键发育基因.
  • 通过比较人类和老鼠致命的表型,可以了解进化和分子差异.