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

Pedigree Analysis01:35

Pedigree Analysis

85.1K
Overview
85.1K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

14.1K
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...
14.1K

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

Isolation of coelomocyte from sea urchin Echinometra mathaei: optimization of culture condition.

In vitro cellular & developmental biology. Animal·2025
Same author

Preparation of Allium cepa-derived exosome-like nanovesicles and their anti-inflammatory potential in a skin wound healing mouse model.

Molecular biology reports·2025
Same author

The promise of gene therapy in common types of dementia.

BioImpacts : BI·2025
Same author

Mapping the Scientometric Landscape of Andrology: Trends, Gaps, and Future Directions in Male Reproductive Health: A Scoping Review.

The world journal of men's health·2025
Same author

Testicular piRNA Analysis Identified Dysregulated piRNAs in Non-obstructive Azoospermia.

Reproductive sciences (Thousand Oaks, Calif.)·2023
Same author

Expression assay of the <i>COLQ</i> in a family with congenital myasthenic syndrome and symptomatic carriers.

Clinical case reports·2023

相关实验视频

Updated: Sep 9, 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

34.0K

在PRKRA的同卵性c.74A>G变体引起DYT-PRKRA:广泛的家族隔离和不确定的意义 (VUS) 的变体重新分类

Fatemeh Soleymani1, Fahimeh Piryaei2,3, Arezoo Farhadi4

  • 1Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.

Movement disorders : official journal of the Movement Disorder Society
|August 29, 2025
PubMed
概括

这项研究将以前不确定的PRKRA基因变异重新归类为可能的病原体,确定它是伊朗家庭DYT-PRKRA运动障碍的原因. 这一发现有助于诊断和咨询受影响的家庭.

关键词:
DYT-PRKRA 公司一个PACT蛋白幼儿期发病的肌肉衰竭人类

更多相关视频

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
09:22

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

5.6K
Genetic Manipulation in &Delta;ku80 Strains for Functional Genomic Analysis of Toxoplasma gondii
09:52

Genetic Manipulation in Δku80 Strains for Functional Genomic Analysis of Toxoplasma gondii

Published on: July 12, 2013

17.2K

相关实验视频

Last Updated: Sep 9, 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

34.0K
Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
09:22

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

5.6K
Genetic Manipulation in &Delta;ku80 Strains for Functional Genomic Analysis of Toxoplasma gondii
09:52

Genetic Manipulation in Δku80 Strains for Functional Genomic Analysis of Toxoplasma gondii

Published on: July 12, 2013

17.2K

科学领域:

  • 遗传学
  • 神经科学
  • 罕见疾病

背景情况:

  • DYT-PRKRA是一种与PRKRA基因突变相关的罕见自体递归运动障碍.
  • 目前,许多已识别的PRKRA变异被归类为具有不确定的意义的变异 (VUS).

研究的目的:

  • 确定DYT-PRKRA的致病变体,该变体以前被归类为VUS.
  • 报告伊朗人口中第一个DYT-PRKRA病例.

主要方法:

  • 在一个患有神经发育衰退的儿科患者身上进行了全外体测序.
  • 在两代血缘家庭中进行分离分析.

主要成果:

  • 鉴定出一种同卵性PRKRAc.74A>G (p.Lys25Arg) 变异,并与DYT-PRKRA表型分离.
  • 不受影响的家庭成员是变种的异构携带者.

结论:

  • 根据家族分离和体数据,PRKRA c.74A> G 变种从VUS重新分类为可能致病的.
  • 这种重新分类对DYT-PRKRA的诊断和提供遗传咨询具有重要意义.
  • 这项研究标志着DYT-PRKRA在伊朗人口中的首次报告.