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相关概念视频

Dosage Compensation02:50

Dosage Compensation

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In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with  distinct numbers of X chromosomes will...
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Genetic Lingo01:11

Genetic Lingo

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Overview
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Human Genetics01:28

Human Genetics

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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...
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Lethal Alleles02:41

Lethal Alleles

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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...
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Translation01:31

Translation

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
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Multiple Allele Traits01:49

Multiple Allele Traits

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The Concept of Multiple Allelism
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相关实验视频

Updated: Sep 2, 2025

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

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基因剂量使得疾病

Corrine Smolen1, Santhosh Girirajan1

  • 1Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate Program, The Huck Institutes of the Life Sciences, University Park, PA 16802, USA.

Cell
|August 5, 2022
PubMed
概括

研究人员通过分析近100万个个体, 确定了与疾病风险相关的剂量敏感基因和细分. 这项研究解决了对剂量变化不耐受的副本数变异区域中因果基因的挑战.

科学领域:

  • 基因组学
  • 人类遗传学
  • 发现疾病基因

背景情况:

  • 在复制数变异 (CNV) 区域中识别因果基因是基因组学中的一个重大挑战.
  • 对于改变基因剂量不耐受的区域通常与疾病表型有关.

研究的目的:

  • 识别剂量敏感的基因组段和相关基因.
  • 确定这些细分和基因在各种疾病表型的风险赋予中的作用.

主要方法:

  • 进行了大规模的分析.
  • 这项分析包括了近100万个人的数据.
  • 重点是拷贝数变异区域和基因剂量敏感性.

主要成果:

  • 在基因组中识别特定的剂量敏感段.
  • 在这些细分体内发现了致病风险的基因.
  • 这些发现提供了与CNV相关的疾病遗传结构的见解.

结论:

  • 该研究成功地确定了与疾病风险相关的剂量敏感区域和基因.
  • 这项研究有助于我们更好地了解基因剂量对人类健康和疾病的影响.

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  • 为未来的遗传研究和临床应用提供了宝贵的资源.