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

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

15.2K
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,...
15.2K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.7K
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%...
17.7K
Next-generation Sequencing03:00

Next-generation Sequencing

89.0K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
89.0K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.5K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
13.5K

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

Parkinson's disease genetics across diverse ancestries: an observational genetic study of causal and risk variants with translational implications.

The Lancet. Neurology·2026
Same author

Age-related erosion of X chromosome inactivation in human tissues.

bioRxiv : the preprint server for biology·2026
Same author

Repeat expansions in Parkinson's disease and parkinsonism across ancestries: insights from a global genetic cohort.

medRxiv : the preprint server for health sciences·2026
Same author

Haplotype-resolved DNA methylation at the <i>APOE</i> locus identifies allele-specific epigenetic signatures relevant to Alzheimer's disease risk.

NPJ dementia·2026
Same author

Expanding the Spectrum of <i>BCAP31</i>-Associated Diseases: Early-Onset Parkinson Disease.

Neurology. Genetics·2026
Same author

iSCORE-PD: an isogenic stem cell collection to research Parkinson's disease.

Nature communications·2026

相关实验视频

Updated: Jul 11, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K

长读测序解决了PRKN帕金森病中复杂的结构变异.

Kensuke Daida1,2,3, Manabu Funayama3,4, Kimberley J Billingsley5

  • 1Integrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.

Movement disorders : official journal of the Movement Disorder Society
|November 6, 2023
PubMed
概括

这项研究确定了帕金森基因 (PRKN) 中的大规模7 Mb的逆转,这是年轻发病帕金森病的常见原因. 长读测序对于在PD遗传分析中检测这些复杂的结构变异至关重要.

关键词:
在PARK2中.帕金森病的疾病.逆转的反转方式长时间阅读序列排序.结构变体结构变体

更多相关视频

Human Peripheral Blood Neutrophil Isolation for Interrogating the Parkinson's Associated LRRK2 Kinase Pathway by Assessing Rab10 Phosphorylation
12:49

Human Peripheral Blood Neutrophil Isolation for Interrogating the Parkinson's Associated LRRK2 Kinase Pathway by Assessing Rab10 Phosphorylation

Published on: March 21, 2020

7.6K
Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag
08:55

Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag

Published on: December 14, 2017

15.1K

相关实验视频

Last Updated: Jul 11, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K
Human Peripheral Blood Neutrophil Isolation for Interrogating the Parkinson's Associated LRRK2 Kinase Pathway by Assessing Rab10 Phosphorylation
12:49

Human Peripheral Blood Neutrophil Isolation for Interrogating the Parkinson's Associated LRRK2 Kinase Pathway by Assessing Rab10 Phosphorylation

Published on: March 21, 2020

7.6K
Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag
08:55

Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag

Published on: December 14, 2017

15.1K

科学领域:

  • 遗传学 遗传学 是一个
  • 神经科学是一个神经科学.
  • 基因组医学是基因组医学.

背景情况:

  • 帕金斯RBR E3无素蛋白联酶 (PRKN) 突变是年轻发病和自体递归帕金森病 (PD) 的主要原因.
  • 该PRKN基因位于一个常见的脆弱部位 (FRA6E),使其易受结构变异的影响.
  • 复杂的结构变异,如PRKN内的反转,很少被报告,这表明潜在的诊断不足.

研究的目的:

  • 通过使用先进的长读测序技术,在PRKN基因中识别复杂的结构变异,特别是反转.
  • 在未解决的遗传原因的情况下,调查年轻发病的帕金森病的遗传基础.

主要方法:

  • 采用了针对性测序,全外体测序,多重结探头放大和长读测序的组合来分析患有 dystonia-parkinsonism 的单胞胎双胞胎.
  • 利用来自大型队列 (英国生物银行和AMP-PD) 的全基因组测序数据来评估PRKN逆转的频率和影响.

主要成果:

  • 在PRKN中检测到一种新的异构体3外因子删除,以及一个显著的7 Mb的反转,包括PRKN编码序列的大量部分.
  • 被诊断为受影响的个体是PRKN突变的复合异构体载体.
  • 在英国生物库中发现了9个可能有害的逆转,在AMP-PD数据集中发现了2个可能影响PRKN基因表达的逆转.

结论:

  • 这项研究首次描述了大型7 Mb的逆转,其断点位于PRKN基因之外.
  • 强调了长读测序在发现复杂结构变异的关键作用,用于诊断未解决的年轻发病帕金森病病例.