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

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.8K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.8K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

15.3K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.3K

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

ARGLU1 in Glioma: A Novel Potential Regulator of Splicing, DNA Repair, and Therapeutic Resistance.

Cells·2026
Same author

Dual-Network Nanocellulose Hydrogels with Dynamic Schiff Base and Borate Bonds for Rapid Self-Healing and Antioxidant Wound Healing.

ACS applied materials & interfaces·2026
Same author

Reduced C3 Levels Link Dyslipidemia and Renal Involvement in Systemic Lupus Erythematosus.

Journal of inflammation research·2026
Same author

RNF145 promotes inflammation in recurrent spontaneous abortion through inducing the K63-linked polyubiquitination of IRF3.

Journal of reproductive immunology·2026
Same author

Developmental chronology of mouse embryo from 2-cell stage through birth.

Nature cell biology·2026
Same author

Alpha-1-antichymotrypsin: a potential inducer for epithelial-mesenchymal transition in lupus nephritis.

Open life sciences·2026

相关实验视频

Updated: Jul 24, 2025

Quantification of Orofacial Phenotypes in Xenopus
09:26

Quantification of Orofacial Phenotypes in Xenopus

Published on: November 6, 2014

9.8K

单核酸多态阵列 (SNP-阵列) 分析与异常的鼻骨胎儿.

Xiaorui Xie1, Linjuan Su1, Ying Li1

  • 1Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou, 350001, China.

Archives of gynecology and obstetrics
|July 10, 2023
PubMed
概括

单核酸多态阵列 (SNP阵列) 测试揭示了缺席或低可塑性鼻骨的胎儿的显著染色体异常. SNP阵列增强了检测,特别是在具有额外标记或晚龄母亲的病例中.

关键词:
副本数量的变化 副本数量的变化型化 (Karyotyping) 是一种方法.鼻子骨缺失 鼻子骨缺失 鼻子骨缺失鼻骨的低成形 鼻骨的低成形单核酸多态系数组是一个单核酸多态系数组.

更多相关视频

Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography
02:42

Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography

Published on: January 17, 2025

376
Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay
11:22

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay

Published on: August 26, 2018

8.9K

相关实验视频

Last Updated: Jul 24, 2025

Quantification of Orofacial Phenotypes in Xenopus
09:26

Quantification of Orofacial Phenotypes in Xenopus

Published on: November 6, 2014

9.8K
Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography
02:42

Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography

Published on: January 17, 2025

376
Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay
11:22

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay

Published on: August 26, 2018

8.9K

科学领域:

  • 产前诊断 在产前诊断
  • 遗传学 遗传学 是一个
  • 医疗成像医学成像

背景情况:

  • 鼻子骨评估是胎儿形瘤检查产前查的关键组成部分.
  • 亚微观染色体异常可能无法通过常规型检测检测.

研究的目的:

  • 为了确定亚微观染色体异常的患病率,使用单核酸多态阵列 (SNP阵列) 在怀孕中缺少或低可塑性鼻骨.
  • 为了在这个群体中比较SNP阵列的诊断产量与传统的型.

主要方法:

  • 通过产前超声波检查,对333名胎儿进行了回顾性分析,这些胎儿的鼻子骨缺失或低可塑性,并通过产前超声波检查确定.
  • 在所有主题上,SNP阵列和常规型的性能.
  • 将胎儿分为三组,基于单独的鼻骨发现,额外的软标记或结构缺陷.

主要成果:

  • 总体而言,22.8%的胎儿患有染色体异常,包括三症21,三症18,性染色体形,以及副本数变异 (CNVs).
  • 异常的患病率增加了更严重的鼻骨发现和其他超声波标记的存在 (8.5%的孤立病例,29.1%的软标记,43.3%的结构缺陷).
  • 与 karyotyping 相比,SNP阵列检测到额外的致病性或可能致病性CNV,特别是在结构缺陷的病例和晚期孕产妇怀孕中.

结论:

  • 胎儿鼻骨异常与除了唐氏综合征之外的广泛染色体异常有关.
  • 通过SNP阵列测试,可以更好地检测带有鼻骨异常的胎儿的染色体异常,特别是在与其他超声检测结果相结合或在晚期孕妇怀孕时.