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相关概念视频

Pedigree Analysis01:35

Pedigree Analysis

Overview
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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...
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Human Genetics01:28

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...

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相关实验视频

Updated: Jul 16, 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

认知模块化和遗传性疾病

S J Paterson1, J H Brown, M K Gsödl

  • 1Neurocognitive Development Unit, Institute of Child Health, University College, London WC1N 1EH, UK.

Science (New York, N.Y.)
|December 22, 1999
PubMed
概括

神经心理学模型可能无法解释遗传发育障碍. 患有威廉姆斯综合征的婴儿表现出明显的认知发育,语言有所改善,但随着时间的推移,数量下降.

科学领域:

  • 发展心理学是发展心理学.
  • 神经科学是一个神经科学.
  • 遗传学 是一个遗传学.

背景情况:

  • 成年人的神经心理模型通常用于理解遗传发育障碍.
  • 现有的模型假设童年或成年期的认知概况反映了初始的婴儿状态,模块从出生就完整或受损.

研究的目的:

  • 挑战成人神经心理模型对遗传发育障碍的应用.
  • 研究威廉姆斯综合征的婴儿认知能力的发展轨迹.

主要方法:

  • 研究人员对被诊断患有威廉姆斯综合征的婴儿进行了两项实验.
  • 认知评估侧重于不同发育阶段的数字判断和语言能力.

主要成果:

  • 在威廉姆斯综合征中观察到综合征内双重解离.
  • 婴儿在婴儿时期的数量任务上表现良好,但在成年时下降.
  • 相反,语言能力在婴儿时很差,但在成年时有所改善.

结论:

  • 遗传性疾病的发育轨迹可能很复杂,不一定与成人模型保持一致.
  • 这些发现表明认知发展的动态相互作用,挑战静态天生的模块化假设.

更多相关视频

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

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

相关实验视频

Last Updated: Jul 16, 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

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

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

  • 结果可能需要对研究遗传疾病的理论和临床方法进行重新评估.