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

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Genetic Material01:20

Genetic Material

Within the human body, a complex and detailed system of trillions of cells works in unison to sustain life. Each cell houses a nucleus, which contains 46 chromosomes divided into 23 pairs. Chromosomes are highly coiled structures made of the genetic material DNA. These chromosomes are essential carriers of genetic information, with half inherited from the mother through her egg and the other half from the father's sperm, combining to create the unique genetic makeup of an individual.

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

Gene and genome duplications have contrasting impacts on biosynthetic and flower developmental pathways in California poppy.

The Plant cell·2026
Same author

Pan-phylum genomes of hornworts reveal conserved autosomes but dynamic accessory and sex chromosomes.

Nature plants·2025
Same author

Five Years of Progress in CRISPR Clinical Trials (2019-2024).

The CRISPR journal·2024
Same author

Letter to the editor commenting on the editorial: "The cost of everything and the value of nothing: New Zealand's under-investment in health".

The New Zealand medical journal·2024
Same author

A Story of Perseverance: An Interview with Matthew Porteus.

The CRISPR journal·2024
Same author

Comparative transcriptomics elucidates the cellular responses of an aeroterrestrial zygnematophyte to UV radiation.

Journal of experimental botany·2024

相关实验视频

Updated: Jul 7, 2026

Microfluidic Dry-spinning and Characterization of Regenerated Silk Fibroin Fibers
08:28

Microfluidic Dry-spinning and Characterization of Regenerated Silk Fibroin Fibers

Published on: September 4, 2017

对囊性纤维化进行遗传查.

Kevin Davies

    Nature
    |June 6, 1992
    PubMed
    概括
    此摘要是机器生成的。

    对于囊性纤维化 (CF) 突变的载体查在凯尔特人群中非常有效. 检测技术的进步可能使广泛的人口查成为可能,但关于遗传咨询和教育的伦理考虑仍然至关重要.

    关键词:
    遗传学和生殖生殖学

    更多相关视频

    A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
    08:22

    A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

    Published on: September 16, 2019

    Transmitochondrial Cybrid Generation Using Cancer Cell Lines
    07:49

    Transmitochondrial Cybrid Generation Using Cancer Cell Lines

    Published on: March 17, 2023

    相关实验视频

    Last Updated: Jul 7, 2026

    Microfluidic Dry-spinning and Characterization of Regenerated Silk Fibroin Fibers
    08:28

    Microfluidic Dry-spinning and Characterization of Regenerated Silk Fibroin Fibers

    Published on: September 4, 2017

    A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
    08:22

    A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

    Published on: September 16, 2019

    Transmitochondrial Cybrid Generation Using Cancer Cell Lines
    07:49

    Transmitochondrial Cybrid Generation Using Cancer Cell Lines

    Published on: March 17, 2023

    科学领域:

    • 医学遗传学 医学遗传学
    • 人口健康 人口健康

    背景情况:

    • 囊性纤维化 (CF) 是一种遗传性疾病,在特定人群中具有显著的突变流行率.
    • 在法国布列塔尼的凯尔特人群中,超过98%的CF引发突变是可以识别的.

    研究的目的:

    • 探索针对囊性纤维化病的全人口携带者查的可行性和影响.
    • 在改善患者寿命的背景下,解决与遗传咨询和教育相关的挑战.

    主要方法:

    • 在特定的人口群体中分析突变检测率.
    • 讨论基因查方面的技术进步.
    • 考虑基因查计划的伦理和教育方面.

    主要成果:

    • 在布列塔尼的凯尔特人群中,囊性纤维化突变的高检测率 (超过98%).
    • 通过改进的技术,有可能检测到95%的突变,从而使常规查成为可能.
    • 由于治疗方面的进步,预计囊性纤维化患者的寿命将增加.

    结论:

    • 人口查囊性纤维化病携带者正在成为技术上可行的.
    • 伦理考虑,包括遗传咨询和教育,对于成功实施至关重要.
    • 结核病患者的寿命越来越长,需要在查工作的同时建立全面的支持系统.